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_002880.3(RAF1):c.935T>C (p.Val312Ala)

CA177679

40612 (ClinVar)

Gene: RAF1

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 5dd4045c-aa85-4341-8238-7a7b67f85d3f

HGVS expressions

NM_002880.3:c.935T>C

NM_002880.3(RAF1):c.935T>C (p.Val312Ala)

NM_001354689.1:c.995T>C

NM_001354690.1:c.935T>C

NM_001354691.1:c.692T>C

NM_001354692.1:c.692T>C

NM_001354693.1:c.836T>C

NM_001354694.1:c.752T>C

NM_001354695.1:c.593T>C

NR_148940.1:n.1350T>C

NR_148941.1:n.1350T>C

NR_148942.1:n.1350T>C

ENST00000251849.8:c.935T>C

ENST00000423275.5:c.*612T>C

ENST00000432427.2:n.572T>C

ENST00000442415.6:c.995T>C

ENST00000465826.5:n.179T>C

ENST00000491290.1:n.564T>C

NC_000003.12:g.12600207A>G

CM000665.2:g.12600207A>G

NC_000003.11:g.12641706A>G

CM000665.1:g.12641706A>G

NC_000003.10:g.12616706A>G

NG_007467.1:g.68973T>C

Uncertain Significance

BP4

PS4

Evidence Links 0

Expert Panel

RASopathy VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

RASopathy VCEP

The c.935T>C p.Val312Ala variant has been identified in 2 probands with clinical features of RASopathies (PS4 not met; GeneDx, Partners LMM internal data; GTR ID's: 26957, 21766; ClinVar SCV000200036.4; SCV000209006.12). Computational prediction tools and conservation analysis suggest that the p.Val312Ala variant does not impact the protein (BP4). In summary, the clinical significance of the p.Val312Ala variant is uncertain. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): BP4.

BP4

Computational prediction tools and conservation analysis suggest that the p.Val312Ala variant does not impact the protein (BP4).

PS4

Approved on: 2017-04-03

Published on: 2018-12-10

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