ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8639C>T (p.Ser2880Leu)

gnomAD frequency: 0.00002  dbSNP: rs760166376
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000817756 SCV000958338 uncertain significance Cohen syndrome 2022-10-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 2905 of the VPS13B protein (p.Ser2905Leu). This variant is present in population databases (rs760166376, gnomAD 0.02%). 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: 660542). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt VPS13B protein function. 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.
Ambry Genetics RCV002372316 SCV002685795 uncertain significance Inborn genetic diseases 2024-11-25 criteria provided, single submitter clinical testing The c.8714C>T (p.S2905L) alteration is located in exon 48 (coding exon 47) of the VPS13B gene. This alteration results from a C to T substitution at nucleotide position 8714, causing the serine (S) at amino acid position 2905 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000817756 SCV001460984 uncertain significance Cohen syndrome 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003413648 SCV004109053 uncertain significance VPS13B-related disorder 2024-04-02 no assertion criteria provided clinical testing The VPS13B c.8639C>T variant is predicted to result in the amino acid substitution p.Ser2880Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of Latino 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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