ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.4356A>T (p.Leu1452Phe)

gnomAD frequency: 0.00004  dbSNP: rs61754112
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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 RCV002316715 SCV000850373 uncertain significance Inborn genetic diseases 2021-09-30 criteria provided, single submitter clinical testing The c.4431A>T (p.L1477F) alteration is located in exon 29 (coding exon 28) of the VPS13B gene. This alteration results from a A to T substitution at nucleotide position 4431, causing the leucine (L) at amino acid position 1477 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001372513 SCV001569182 uncertain significance Cohen syndrome 2022-03-14 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1477 of the VPS13B protein (p.Leu1477Phe). This variant is present in population databases (rs61754112, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 589484). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001372513 SCV002082543 uncertain significance Cohen syndrome 2019-11-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003945760 SCV004763473 uncertain significance VPS13B-related disorder 2024-02-27 no assertion criteria provided clinical testing The VPS13B c.4356A>T variant is predicted to result in the amino acid substitution p.Leu1452Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0053% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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