ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2847A>G (p.Ile949Met)

gnomAD frequency: 0.00009  dbSNP: rs398124331
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081889 SCV000113824 uncertain significance not provided 2013-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000807227 SCV000947270 uncertain significance Cohen syndrome 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 949 of the VPS13B protein (p.Ile949Met). This variant is present in population databases (rs398124331, gnomAD 0.03%). 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: 95842). 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: "Benign"; 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.
New York Genome Center RCV000807227 SCV002764318 uncertain significance Cohen syndrome 2021-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002514437 SCV003743223 uncertain significance Inborn genetic diseases 2021-06-04 criteria provided, single submitter clinical testing The c.2847A>G (p.I949M) alteration is located in exon 20 (coding exon 19) of the VPS13B gene. This alteration results from a A to G substitution at nucleotide position 2847, causing the isoleucine (I) at amino acid position 949 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000807227 SCV001454819 uncertain significance Cohen syndrome 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004742250 SCV005348715 uncertain significance VPS13B-related disorder 2024-05-03 no assertion criteria provided clinical testing The VPS13B c.2847A>G variant is predicted to result in the amino acid substitution p.Ile949Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.028% of alleles in individuals of European (Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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