ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.4552A>C (p.Asn1518His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002667911 SCV002980492 uncertain significance Cohen syndrome 2022-07-09 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 1543 of the VPS13B protein (p.Asn1543His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. 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.
Ambry Genetics RCV003357973 SCV004076947 uncertain significance Inborn genetic diseases 2023-07-10 criteria provided, single submitter clinical testing The c.4627A>C (p.N1543H) alteration is located in exon 29 (coding exon 28) of the VPS13B gene. This alteration results from a A to C substitution at nucleotide position 4627, causing the asparagine (N) at amino acid position 1543 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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