ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3332C>T (p.Pro1111Leu)

gnomAD frequency: 0.00002  dbSNP: rs576973103
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242571 SCV001415666 uncertain significance Cohen syndrome 2024-09-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1111 of the VPS13B protein (p.Pro1111Leu). This variant is present in population databases (rs576973103, gnomAD 0.08%). 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: 967612). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt VPS13B protein function with a positive predictive value of 80%. 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 RCV002322152 SCV002606591 uncertain significance Inborn genetic diseases 2018-01-31 criteria provided, single submitter clinical testing The p.P1111L variant (also known as c.3332C>T), located in coding exon 22 of the VPS13B gene, results from a C to T substitution at nucleotide position 3332. The proline at codon 1111 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001242571 SCV002079556 uncertain significance Cohen syndrome 2020-02-21 no assertion criteria provided clinical testing

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