ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.2105A>G (p.Tyr702Cys) (rs757094189)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171288 SCV000221485 likely pathogenic not provided no assertion criteria provided research
GeneDx RCV000171288 SCV000808544 uncertain significance not provided 2018-01-16 criteria provided, single submitter clinical testing The Y702C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Y702C variant is observed in 1/24000 (0.0042%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The Y702C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. A missense variant in the same residue (Y702H) has been reported in the Human Gene Mutation Database in association with SOS1-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein.

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