Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_000155.4(GALT):c.270T>C (p.Asp90=)

CA464595620

913656 (ClinVar)

Gene: GALT (HGNC:2592)

Condition: galactosemia (MONDO:0018116)

Inheritance Mode: Autosomal recessive inheritance

UUID: 718cdaa6-7244-410b-add6-1faec06cfaaa

Approved on: 2026-07-20

Published on: 2026-07-20

HGVS expressions

NM_000155.4:c.270T>C

NM_000155.4(GALT):c.270T>C (p.Asp90=)

NC_000009.12:g.34647509T>C

CM000671.2:g.34647509T>C

NC_000009.11:g.34647506T>C

CM000671.1:g.34647506T>C

NC_000009.10:g.34637506T>C

NG_009029.1:g.5872T>C

NG_028966.1:g.325T>C

NG_009029.2:g.5921T>C

ENST00000691183.1:c.270T>C

ENST00000378842.8:c.270T>C

ENST00000378842.7:c.270T>C

ENST00000450095.6:c.50+251T>C

ENST00000465543.6:n.609T>C

ENST00000468099.2:n.543T>C

ENST00000472111.5:n.311T>C

ENST00000473506.6:c.253-32T>C

ENST00000473529.5:n.317T>C

ENST00000485531.1:n.496T>C

ENST00000487381.5:n.529T>C

ENST00000489643.6:n.282+251T>C

ENST00000554085.5:c.*14T>C

ENST00000554139.5:n.323T>C

ENST00000554330.5:n.250-32T>C

ENST00000554550.5:c.252+251T>C

ENST00000554638.5:n.527T>C

ENST00000554897.5:c.252+251T>C

ENST00000554944.5:n.283-32T>C

ENST00000555020.5:n.300T>C

ENST00000555086.5:n.274T>C

ENST00000555214.5:n.261+251T>C

ENST00000556157.1:n.394T>C

ENST00000556244.1:c.257T>C

ENST00000556278.1:c.252+251T>C

ENST00000556403.5:n.283T>C

ENST00000556494.5:n.302T>C

ENST00000557541.5:n.446-32T>C

ENST00000557706.5:n.617T>C

NM_000155.3:c.270T>C

NM_001258332.1:c.50+251T>C

NM_001258332.2:c.50+251T>C

Uncertain Significance

PP3 PM2_Supporting

BP4

Evidence Links 0

Expert Panel

Galactosemia VCEP

Criteria Specification Information

Criteria Specification: ClinGen Galactosemia Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GALT Version 1.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Galactosemia VCEP

The c.291C>T variant is a synonymous (silent) variant that the computational splicing predictor SpliceAI gives a delta score of 0.2 for acceptor gain; however, the acceptor gain prediction is the canonical acceptor (PP3). The filtering allele frequency of the c.270T>C variant in GALT is 0.00006614 for Admixed American chromosomes by gnomAD v4.1.1, which is lower than the ClinGen Galactosemia threshold (≤ 0.0005) for PM2_Supporting, and therefore meets this criterion (PM2_Supporting). In summary, this variant meets the criteria to be classified as variant of uncertain significance for galactosemia based on the ACMG/AMP criteria applied, as specified by the ClinGen Galactosemia VCEP: PM2_Supporting, PP3

PP3

The computational predictor SpliceAI gives a delta score of 0.2 for acceptor gain, but the acceptor gain prediction is the canonical acceptor.

PM2_Supporting

The filtering allele frequency of the c.270T>C variant in GALT is 0.00006614 for Admixed American chromosomes by gnomAD v4.1.1, which is lower than the ClinGen Galactosemia threshold (≤ 0.0005) for PM2_Supporting, and therefore meets this criterion (PM2_Supporting).

BP4

The computational predictor SpliceAI gives a delta score of 0.2 for acceptor gain, but the acceptor gain prediction is the canonical acceptor.

Curation History

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