ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.4324T>A (p.Ser1442Thr)

gnomAD frequency: 0.00011  dbSNP: rs143566455
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000999060 SCV001155464 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing VPS13B: PM2
Invitae RCV001243240 SCV001416385 likely benign Cohen syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000999060 SCV001794201 uncertain significance not provided 2021-01-25 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
Ambry Genetics RCV002549117 SCV003527230 uncertain significance Inborn genetic diseases 2022-02-14 criteria provided, single submitter clinical testing The c.4399T>A (p.S1467T) alteration is located in exon 29 (coding exon 28) of the VPS13B gene. This alteration results from a T to A substitution at nucleotide position 4399, causing the serine (S) at amino acid position 1467 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003411944 SCV004114960 uncertain significance VPS13B-related disorder 2024-02-01 criteria provided, single submitter clinical testing The VPS13B c.4324T>A variant is predicted to result in the amino acid substitution p.Ser1442Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.11% of alleles in individuals of Ashkenazi Jewish 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.
Natera, Inc. RCV001243240 SCV002082541 uncertain significance Cohen syndrome 2019-10-29 no assertion criteria provided clinical testing

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