ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5528A>T (p.Glu1843Val)

dbSNP: rs141211386
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241750 SCV001414791 likely benign Cohen syndrome 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003414049 SCV004109399 uncertain significance VPS13B-related disorder 2024-02-13 criteria provided, single submitter clinical testing The VPS13B c.5528A>T variant is predicted to result in the amino acid substitution p.Glu1843Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.032% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004034692 SCV004978153 uncertain significance Inborn genetic diseases 2023-12-21 criteria provided, single submitter clinical testing The c.5603A>T (p.E1868V) alteration is located in exon 34 (coding exon 33) of the VPS13B gene. This alteration results from a A to T substitution at nucleotide position 5603, causing the glutamic acid (E) at amino acid position 1868 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001241750 SCV002082585 uncertain significance Cohen syndrome 2020-02-13 no assertion criteria provided clinical testing

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