ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.347C>G (p.Thr116Arg)

gnomAD frequency: 0.00008  dbSNP: rs762421764
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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 RCV001066241 SCV001231247 uncertain significance Cohen syndrome 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 116 of the VPS13B protein (p.Thr116Arg). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 860005). 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 not 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 RCV004030601 SCV004978140 uncertain significance Inborn genetic diseases 2023-11-15 criteria provided, single submitter clinical testing The c.347C>G (p.T116R) alteration is located in exon 4 (coding exon 3) of the VPS13B gene. This alteration results from a C to G substitution at nucleotide position 347, causing the threonine (T) at amino acid position 116 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001066241 SCV001454216 uncertain significance Cohen syndrome 2020-01-24 no assertion criteria provided clinical testing

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