ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.1523C>T (p.Pro508Leu)

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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 RCV003005356 SCV003302487 uncertain significance not provided 2022-11-08 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 508 of the VPS13A protein (p.Pro508Leu). 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 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 RCV004963342 SCV005531671 uncertain significance Inborn genetic diseases 2024-07-02 criteria provided, single submitter clinical testing The c.1523C>T (p.P508L) alteration is located in exon 17 (coding exon 17) of the VPS13A gene. This alteration results from a C to T substitution at nucleotide position 1523, causing the proline (P) at amino acid position 508 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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