ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3106G>A (p.Val1036Ile)

gnomAD frequency: 0.00002  dbSNP: rs745742179
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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 RCV001038722 SCV001202209 uncertain significance Cohen syndrome 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1036 of the VPS13B protein (p.Val1036Ile). This variant is present in population databases (rs745742179, gnomAD 0.01%). 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: 837399). 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 RCV004678896 SCV005174734 uncertain significance Inborn genetic diseases 2024-05-30 criteria provided, single submitter clinical testing The c.3106G>A (p.V1036I) alteration is located in exon 22 (coding exon 21) of the VPS13B gene. This alteration results from a G to A substitution at nucleotide position 3106, causing the valine (V) at amino acid position 1036 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001038722 SCV001456261 uncertain significance Cohen syndrome 2020-03-11 no assertion criteria provided clinical testing

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