ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11266T>C (p.Ser3756Pro)

gnomAD frequency: 0.00003  dbSNP: rs138012121
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002324722 SCV002609912 uncertain significance Inborn genetic diseases 2024-04-27 criteria provided, single submitter clinical testing The c.11341T>C (p.S3781P) alteration is located in exon 59 (coding exon 58) of the VPS13B gene. This alteration results from a T to C substitution at nucleotide position 11341, causing the serine (S) at amino acid position 3781 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003099315 SCV003517607 uncertain significance Cohen syndrome 2022-08-10 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 3781 of the VPS13B protein (p.Ser3781Pro). 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. 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.

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