ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10726G>A (p.Ala3576Thr)

dbSNP: rs779069069
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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 RCV001203954 SCV001375139 uncertain significance Cohen syndrome 2021-12-02 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3601 of the VPS13B protein (p.Ala3601Thr). This variant is present in population databases (rs779069069, gnomAD 0.006%). 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: 935379). 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 RCV002418676 SCV002725284 uncertain significance Inborn genetic diseases 2021-06-18 criteria provided, single submitter clinical testing The c.10801G>A (p.A3601T) alteration is located in exon 56 (coding exon 55) of the VPS13B gene. This alteration results from a G to A substitution at nucleotide position 10801, causing the alanine (A) at amino acid position 3601 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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