ClinVar Miner

Submissions for variant NM_004821.3(HAND1):c.454A>G (p.Lys152Glu)

gnomAD frequency: 0.00010  dbSNP: rs762375465
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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 RCV002011364 SCV002300810 uncertain significance Hypoplastic left heart syndrome 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 152 of the HAND1 protein (p.Lys152Glu). This variant is present in population databases (rs762375465, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with HAND1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1509887). 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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