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_000448.3(RAG1):c.1064T>C (p.Met355Thr)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA5950092

583401 (ClinVar)

Gene: RAG1

Condition: recombinase activating gene 1 deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 6e78f79c-ace5-4917-b4f4-e3ff31f1a665

Approved on: 2024-02-12

Published on: 2024-02-12

HGVS expressions

NM_000448.3:c.1064T>C

NM_000448.3(RAG1):c.1064T>C (p.Met355Thr)

NC_000011.10:g.36574368T>C

CM000673.2:g.36574368T>C

NC_000011.9:g.36595918T>C

CM000673.1:g.36595918T>C

NC_000011.8:g.36552494T>C

NG_007528.1:g.11356T>C

ENST00000299440.6:c.1064T>C

ENST00000299440.5:c.1064T>C

ENST00000534663.1:c.1064T>C

NM_000448.2:c.1064T>C

NM_001377277.1:c.1064T>C

NM_001377278.1:c.1064T>C

NM_001377279.1:c.1064T>C

NM_001377280.1:c.1064T>C

Uncertain Significance

PM2

Evidence Links 0

Expert Panel

Severe Combined Immunodeficiency Disease VCEP

Criteria Specification Information

Criteria Specification: ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAG1 Version 1.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Severe Combined Immunodeficiency Disease VCEP

NM_000448.3(RAG1):c.1064T>C is a missense variant predicted to cause substitution of Methionine by Threonine at amino acid 355 (p.Met355Thr).The highest population minor allele frequency in gnomAD v4 is 0.001815 (11/6062) in Middle Eastern population. (PM2_Supporting, BS1, and BA1 are not met). There are no publications for this variant in the literature. In summary, this variant meets the criteria to be classified as a variant of uncertain significance for autosomal recessive severe combined immunodeficiency due to RAG1 deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP: No criteria met (VCEP specifications version 1).

PM2

The highest population minor allele frequency in gnomAD v4 is 0.001815 (11/6062) in Middle Eastern population. (PM2_Supporting, BS1, and BA1 are not met)

Curation History

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.