ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.2392G>C (p.Val798Leu)

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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 RCV003068778 SCV003455097 uncertain significance not provided 2022-05-27 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 798 of the VPS13A protein (p.Val798Leu). This variant is present in population databases (rs761012267, gnomAD 0.01%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest 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 RCV003068779 SCV003528445 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.2392G>C (p.V798L) alteration is located in exon 23 (coding exon 23) of the VPS13A gene. This alteration results from a G to C substitution at nucleotide position 2392, causing the valine (V) at amino acid position 798 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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