ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.2090A>G (p.Asn697Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002987586 SCV003710486 uncertain significance Inborn genetic diseases 2022-12-05 criteria provided, single submitter clinical testing The c.2090A>G (p.N697S) alteration is located in exon 21 (coding exon 21) of the VPS13A gene. This alteration results from a A to G substitution at nucleotide position 2090, causing the asparagine (N) at amino acid position 697 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003108208 SCV003780583 uncertain significance not provided 2022-09-12 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 697 of the VPS13A protein (p.Asn697Ser). This variant is present in population databases (rs141249210, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with VPS13A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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