ClinVar Miner

Submissions for variant NM_004821.3(HAND1):c.128A>G (p.Gln43Arg)

gnomAD frequency: 0.00002  dbSNP: rs768965463
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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 RCV001917994 SCV002168785 uncertain significance Hypoplastic left heart syndrome 2023-08-23 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 43 of the HAND1 protein (p.Gln43Arg). 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 variant has not been reported in the literature in individuals affected with HAND1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1400060). 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.
Ambry Genetics RCV004041726 SCV004880341 uncertain significance not specified 2024-02-12 criteria provided, single submitter clinical testing The c.128A>G (p.Q43R) 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 128, causing the glutamine (Q) at amino acid position 43 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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