ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10612G>A (p.Gly3538Arg)

gnomAD frequency: 0.00014  dbSNP: rs150767461
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723856 SCV000203797 uncertain significance not provided 2014-02-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000154133 SCV000597899 uncertain significance not specified 2017-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316977 SCV000850476 uncertain significance Inborn genetic diseases 2023-05-09 criteria provided, single submitter clinical testing The c.10687G>A (p.G3563R) 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 10687, causing the glycine (G) at amino acid position 3563 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000765983 SCV000897413 uncertain significance Cohen syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000765983 SCV000937858 likely benign Cohen syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000723856 SCV004039731 uncertain significance not provided 2023-09-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003416005 SCV004115119 uncertain significance VPS13B-related disorder 2024-01-19 criteria provided, single submitter clinical testing The VPS13B c.10612G>A variant is predicted to result in the amino acid substitution p.Gly3538Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.072% of alleles in individuals of African descent in gnomAD, which may be too common to be the primary cause of disease. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV000765983 SCV001466905 likely benign Cohen syndrome 2020-06-22 no assertion criteria provided clinical testing

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