ClinVar Miner

Submissions for variant NM_004821.3(HAND1):c.110A>G (p.Gln37Arg)

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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 RCV003757560 SCV004423598 uncertain significance Hypoplastic left heart syndrome 2023-01-10 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with HAND1-related conditions. This variant is present in population databases (rs533319519, gnomAD 0.003%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 37 of the HAND1 protein (p.Gln37Arg).

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