ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8102T>C (p.Ile2701Thr)

gnomAD frequency: 0.00006  dbSNP: rs189689493
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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 RCV001241132 SCV001414127 uncertain significance Cohen syndrome 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2726 of the VPS13B protein (p.Ile2726Thr). This variant is present in population databases (rs189689493, gnomAD 0.04%). 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: 966454). 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 not expected to disrupt VPS13B protein function with a negative 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 RCV002430026 SCV002680064 uncertain significance Inborn genetic diseases 2024-12-10 criteria provided, single submitter clinical testing The c.8177T>C (p.I2726T) alteration is located in exon 45 (coding exon 44) of the VPS13B gene. This alteration results from a T to C substitution at nucleotide position 8177, causing the isoleucine (I) at amino acid position 2726 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001241132 SCV002082667 uncertain significance Cohen syndrome 2020-03-30 no assertion criteria provided clinical testing

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