ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5617G>A (p.Glu1873Lys)

gnomAD frequency: 0.00004  dbSNP: rs774677234
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001060183 SCV001224859 uncertain significance Cohen syndrome 2022-05-03 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1898 of the VPS13B protein (p.Glu1898Lys). This variant is present in population databases (rs774677234, gnomAD 0.05%). 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: 855020). 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.
Ambry Genetics RCV002554426 SCV003614169 uncertain significance Inborn genetic diseases 2022-04-07 criteria provided, single submitter clinical testing The c.5692G>A (p.E1898K) alteration is located in exon 34 (coding exon 33) of the VPS13B gene. This alteration results from a G to A substitution at nucleotide position 5692, causing the glutamic acid (E) at amino acid position 1898 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
New York Genome Center RCV001060183 SCV003925322 uncertain significance Cohen syndrome 2022-09-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001060183 SCV001460390 uncertain significance Cohen syndrome 2020-03-17 no assertion criteria provided clinical testing

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