ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.505C>A (p.Leu169Ile)

gnomAD frequency: 0.00042  dbSNP: rs376498106
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313609 SCV000848741 uncertain significance Inborn genetic diseases 2021-07-16 criteria provided, single submitter clinical testing The c.505C>A (p.L169I) alteration is located in exon 5 (coding exon 4) of the VPS13B gene. This alteration results from a C to A substitution at nucleotide position 505, causing the leucine (L) at amino acid position 169 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001247920 SCV001421373 likely benign Cohen syndrome 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403651 SCV004104277 uncertain significance VPS13B-related disorder 2023-11-30 criteria provided, single submitter clinical testing The VPS13B c.505C>A variant is predicted to result in the amino acid substitution p.Leu169Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.13% 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.
Natera, Inc. RCV001247920 SCV002079434 uncertain significance Cohen syndrome 2019-11-11 no assertion criteria provided clinical testing

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