ClinVar Miner

Submissions for variant NM_004821.3(HAND1):c.370G>A (p.Val124Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003405978 SCV004108848 uncertain significance HAND1-related disorder 2022-10-23 criteria provided, single submitter clinical testing The HAND1 c.370G>A variant is predicted to result in the amino acid substitution p.Val124Met. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV003592029 SCV004299416 uncertain significance Hypoplastic left heart syndrome 2023-05-10 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with HAND1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 124 of the HAND1 protein (p.Val124Met).

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