ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11114A>T (p.Glu3705Val)

gnomAD frequency: 0.00030  dbSNP: rs376308074
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503657 SCV000597921 uncertain significance not specified 2016-04-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001239531 SCV001412409 likely benign Cohen syndrome 2024-12-02 criteria provided, single submitter clinical testing
GeneDx RCV002244975 SCV002512829 uncertain significance not provided 2022-04-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003243159 SCV003951831 uncertain significance Inborn genetic diseases 2023-03-20 criteria provided, single submitter clinical testing The c.11189A>T (p.E3730V) alteration is located in exon 58 (coding exon 57) of the VPS13B gene. This alteration results from a A to T substitution at nucleotide position 11189, causing the glutamic acid (E) at amino acid position 3730 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001239531 SCV002082783 uncertain significance Cohen syndrome 2019-11-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003403179 SCV004110091 uncertain significance VPS13B-related disorder 2024-04-30 no assertion criteria provided clinical testing The VPS13B c.11114A>T variant is predicted to result in the amino acid substitution p.Glu3705Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.12% of alleles in individuals of African descent in gnomAD. 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.

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