ClinVar Miner

Submissions for variant NM_018668.5(VPS33B):c.637G>A (p.Glu213Lys)

gnomAD frequency: 0.00013  dbSNP: rs951699405
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731730 SCV000859579 uncertain significance not provided 2018-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000731730 SCV002567487 uncertain significance not provided 2022-02-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000731730 SCV003498170 uncertain significance not provided 2022-10-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 596029). This variant has not been reported in the literature in individuals affected with VPS33B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.03%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 213 of the VPS33B protein (p.Glu213Lys). 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 VPS33B 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.
PreventionGenetics, part of Exact Sciences RCV003392570 SCV004119947 uncertain significance VPS33B-related disorder 2023-08-05 criteria provided, single submitter clinical testing The VPS33B c.637G>A variant is predicted to result in the amino acid substitution p.Glu213Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.028% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-91550243-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005010739 SCV005643402 uncertain significance Arthrogryposis, renal dysfunction, and cholestasis 1; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive; Cholestasis, progressive familial intrahepatic, 12 2024-04-29 criteria provided, single submitter clinical testing

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