ClinVar Miner

Submissions for variant NM_004821.3(HAND1):c.1A>G (p.Met1Val)

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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 RCV003050927 SCV003444081 uncertain significance Hypoplastic left heart syndrome 2023-06-02 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. ClinVar contains an entry for this variant (Variation ID: 2139274). This variant has not been reported in the literature in individuals affected with HAND1-related conditions. This variant is present in population databases (rs763806635, gnomAD 0.003%). This sequence change affects the initiator methionine of the HAND1 mRNA. The next in-frame methionine is located at codon 22.

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