ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1290A>G (p.Ile430Met) (rs1556498080)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498410 SCV000590117 uncertain significance not provided 2018-08-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ALG13 gene. The I430M variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The I430M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. However, the I430M variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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