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]

Link to SEPIO compliant JSON-LD document

Variant: NM_005633.3(SOS1):c.350T>G (p.Val117Gly)

CA136140

45364 (ClinVar)

Gene: SOS1

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 35b65877-4f4e-4afc-b8ac-5e10c6c2f474

HGVS expressions

NM_005633.3:c.350T>G

NM_005633.3(SOS1):c.350T>G (p.Val117Gly)

NC_000002.12:g.39056862A>C

CM000664.2:g.39056862A>C

NC_000002.11:g.39284003A>C

CM000664.1:g.39284003A>C

NC_000002.10:g.39137507A>C

NG_007530.1:g.68602T>G

ENST00000395038.6:c.350T>G

ENST00000402219.6:c.350T>G

ENST00000426016.5:c.350T>G

ENST00000451331.1:c.179T>G

Likely Benign

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Conflicting Evidence"

BS2 BP5 PP3

Evidence Links 0

Expert Panel

RASopathy VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

RASopathy VCEP

The c.350T>G (p.Val117Gly) variant has been identified in a patient with clinical features of a RASopathy with an alternate molecular basis for disease (BP5; GeneDx, Partners LMM GTR Lab ID: 26957, 21766; ClinVar SCV000062230.5, SCV000209093.5). This variant was observed in a healthy adult individual who did not have clinical features of a RASopathy (BS2; GeneDx, Partners LMM; GTR ID's: 26957, 21766; ClinVar SCV000062230.5, SCV000209093.5). Computational prediction tools and conservation analysis suggest that the p.Val117Gly variant may impact the protein (PP3). In summary, this variant meets criteria to be classified as likely benign. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): BP5, BS2, PP3.

BS2

This variant was observed in a healthy adult individual who did not have clinical features of a RASopathy (BS2; GeneDx, Partners LMM; GTR ID's: 26957, 21766; ClinVar SCV000062230.5, SCV000209093.5).

BP5

PP3

Computational prediction tools and conservation analysis suggest that the p.Val117Gly variant may impact the protein (PP3).

Approved on: 2017-04-03

Published on: 2018-12-10

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