ClinVar Miner

Submissions for variant NM_004821.3(HAND1):c.271C>G (p.Arg91Gly)

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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 RCV003756757 SCV004521033 uncertain significance Hypoplastic left heart syndrome 2023-11-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 91 of the HAND1 protein (p.Arg91Gly). This variant is present in population databases (rs369296058, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with HAND1-related conditions. 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 tolerated. 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.

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