ClinVar Miner

Submissions for variant NM_004821.3(HAND1):c.289G>T (p.Gly97Cys)

dbSNP: rs878854746
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001317302 SCV001507959 uncertain significance Hypoplastic left heart syndrome 2016-01-01 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a HAND1-related disease. This sequence change replaces glycine with cysteine at codon 97 of the HAND1 protein (p.Gly97Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine.

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