ClinVar Miner

Submissions for variant NM_004821.3(HAND1):c.117G>C (p.Arg39Ser)

dbSNP: rs2113303993
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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 RCV001914836 SCV002143489 uncertain significance Hypoplastic left heart syndrome 2021-08-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 39 of the HAND1 protein (p.Arg39Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with HAND1-related conditions. This variant is not present in population databases (ExAC no frequency).

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