ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1772T>C (p.Val591Ala)

gnomAD frequency: 0.00001  dbSNP: rs753616467
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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 RCV001218222 SCV001390094 uncertain significance Cohen syndrome 2022-03-02 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 591 of the VPS13B protein (p.Val591Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. 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 VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 947201). 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: "Possibly 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 RCV002562446 SCV003622059 uncertain significance Inborn genetic diseases 2022-05-09 criteria provided, single submitter clinical testing The c.1772T>C (p.V591A) alteration is located in exon 13 (coding exon 12) of the VPS13B gene. This alteration results from a T to C substitution at nucleotide position 1772, causing the valine (V) at amino acid position 591 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001218222 SCV002079484 uncertain significance Cohen syndrome 2021-08-02 no assertion criteria provided clinical testing

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