ClinVar Miner

Submissions for variant NM_020778.5(ALPK3):c.1126C>T (p.Arg376Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003120149 SCV003799787 uncertain significance Cardiomyopathy, familial hypertrophic 27 2022-10-21 criteria provided, single submitter clinical testing The ALPK3 c.1126C>T; p.Arg376Trp variant (rs962690116), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The arginine at codon 376 is moderately conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.181). Due to limited information, the clinical significance of this variant is uncertain at this time.

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