ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3031T>C (p.Tyr1011His)

gnomAD frequency: 0.00001  dbSNP: rs771021187
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001309390 SCV001498886 uncertain significance Cohen syndrome 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 1011 of the VPS13B protein (p.Tyr1011His). This variant is present in population databases (rs771021187, gnomAD 0.003%). 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: 1011567). 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.
Fulgent Genetics, Fulgent Genetics RCV001309390 SCV002792143 uncertain significance Cohen syndrome 2021-07-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001309390 SCV002079546 uncertain significance Cohen syndrome 2020-05-13 no assertion criteria provided clinical testing

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