ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3382C>A (p.His1128Asn)

dbSNP: rs1563732631
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316828 SCV000850585 uncertain significance Inborn genetic diseases 2017-04-07 criteria provided, single submitter clinical testing The p.H1128N variant (also known as c.3382C>A), located in coding exon 22 of the VPS13B gene, results from a C to A substitution at nucleotide position 3382. The histidine at codon 1128 is replaced by asparagine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001308407 SCV001497856 uncertain significance Cohen syndrome 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 1128 of the VPS13B protein (p.His1128Asn). This variant is not present in population databases (gnomAD no frequency). 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: 589602). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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.
Natera, Inc. RCV001308407 SCV002079559 uncertain significance Cohen syndrome 2020-08-18 no assertion criteria provided clinical testing

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