ClinVar Miner

Submissions for variant NM_004821.3(HAND1):c.202G>C (p.Ala68Pro)

gnomAD frequency: 0.00010  dbSNP: rs374965548
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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 RCV001901608 SCV002173335 uncertain significance Hypoplastic left heart syndrome 2023-08-11 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1404364). This variant has not been reported in the literature in individuals affected with HAND1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 68 of the HAND1 protein (p.Ala68Pro).

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