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]

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Variant: NM_005633.3(SOS1):c.109A>G (p.Thr37Ala)

CA136074

40641 (ClinVar)

Gene: SOS1

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: b6f58a98-fd4f-42ec-a406-4b49d996c1dd

Approved on: 2017-04-03

Published on: 2018-12-10

HGVS expressions

NM_005633.3:c.109A>G

NM_005633.3(SOS1):c.109A>G (p.Thr37Ala)

ENST00000395038.6:c.109A>G

ENST00000402219.6:c.109A>G

ENST00000426016.5:c.109A>G

ENST00000451331.1:c.-63A>G

NC_000002.12:g.39067732T>C

CM000664.2:g.39067732T>C

NC_000002.11:g.39294873T>C

CM000664.1:g.39294873T>C

NC_000002.10:g.39148377T>C

NG_007530.1:g.57732A>G

Likely Benign

BS4 BP4 BP5

Evidence Links 0

Expert Panel

RASopathy VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

RASopathy VCEP

The c.109A>G (p.Thr37Ala) variant did not segregate with disease in affected family members (BS4; Partners LMM internal data; GTR Lab ID: 21766; ClinVar SCV000062187.5). This variant has been identified in a patient with an alternate molecular basis for disease (BP5; Partners LMM internal data; GTR Lab ID: 21766; ClinVar SCV000062187.5). Computational prediction tools and conservation analysis suggest that the p.Thr37Ala variant does not impact the protein (BP4). In summary, this variant meets criteria to be classified as likely benign. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): BS4, BP5, BP4.

BS4

The c.109A>G (p.Thr37Ala) variant did not segregate with disease in affected family members (BS4; Partners LMM internal data; GTR Lab ID: 21766; ClinVar SCV000062187.5).

BP4

Computational prediction tools and conservation analysis suggest that the p.Thr37Ala variant does not impact the protein (BP4).

BP5

his variant has been identified in a patient with an alternate molecular basis for disease (BP5; Partners LMM internal data; GTR Lab ID: 21766; ClinVar SCV000062187.5).

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