ClinVar Miner

Submissions for variant NM_004821.3(HAND1):c.51C>G (p.His17Gln)

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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 RCV003757845 SCV004464537 uncertain significance Hypoplastic left heart syndrome 2023-03-27 criteria provided, single submitter clinical testing 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 histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 17 of the HAND1 protein (p.His17Gln). 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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