ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11180G>A (p.Arg3727Gln)

gnomAD frequency: 0.00001  dbSNP: rs913075497
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513834 SCV000610132 uncertain significance not provided 2017-03-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438239 SCV002754178 uncertain significance Inborn genetic diseases 2017-12-17 criteria provided, single submitter clinical testing The p.R3752Q variant (also known as c.11255G>A), located in coding exon 57 of the VPS13B gene, results from a G to A substitution at nucleotide position 11255. The arginine at codon 3752 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001272468 SCV003524541 uncertain significance Cohen syndrome 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 3752 of the VPS13B protein (p.Arg3752Gln). This variant is present in population databases (no rsID available, gnomAD 0.004%). 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: 445591). 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.
New York Genome Center RCV001272468 SCV003925081 uncertain significance Cohen syndrome 2022-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272468 SCV001454481 uncertain significance Cohen syndrome 2020-01-24 no assertion criteria provided clinical testing

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