ClinVar Miner

Submissions for variant NM_004821.3(HAND1):c.215A>G (p.Tyr72Cys)

gnomAD frequency: 0.00001  dbSNP: rs764242373
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001318486 SCV001509188 uncertain significance Hypoplastic left heart syndrome 2023-05-01 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. ClinVar contains an entry for this variant (Variation ID: 1019101). This variant has not been reported in the literature in individuals affected with HAND1-related conditions. This variant is present in population databases (rs764242373, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 72 of the HAND1 protein (p.Tyr72Cys).
Ambry Genetics RCV004034938 SCV004065036 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing The c.215A>G (p.Y72C) alteration is located in exon 1 (coding exon 1) of the HAND1 gene. This alteration results from a A to G substitution at nucleotide position 215, causing the tyrosine (Y) at amino acid position 72 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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