ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5264G>C (p.Gly1755Ala)

dbSNP: rs1426875703
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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 RCV001051534 SCV001215691 uncertain significance Cohen syndrome 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1780 of the VPS13B protein (p.Gly1780Ala). This variant is present in population databases (no rsID available, 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: 847894). 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 RCV002553739 SCV003569073 uncertain significance Inborn genetic diseases 2021-08-12 criteria provided, single submitter clinical testing The c.5339G>C (p.G1780A) alteration is located in exon 34 (coding exon 33) of the VPS13B gene. This alteration results from a G to C substitution at nucleotide position 5339, causing the glycine (G) at amino acid position 1780 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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