ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3790C>T (p.Pro1264Ser)

dbSNP: rs527263178
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001233680 SCV001406285 uncertain significance Cohen syndrome 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1264 of the VPS13B protein (p.Pro1264Ser). This variant is present in population databases (rs527263178, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 960201). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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 RCV002563236 SCV003653234 uncertain significance Inborn genetic diseases 2022-10-03 criteria provided, single submitter clinical testing The c.3790C>T (p.P1264S) alteration is located in exon 25 (coding exon 24) of the VPS13B gene. This alteration results from a C to T substitution at nucleotide position 3790, causing the proline (P) at amino acid position 1264 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001233680 SCV002082526 uncertain significance Cohen syndrome 2021-04-28 no assertion criteria provided clinical testing

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