ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.7744G>A (p.Asp2582Asn) (rs773242093)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711303 SCV000841643 uncertain significance not provided 2018-06-05 criteria provided, single submitter clinical testing
Invitae RCV001049653 SCV001213718 uncertain significance Cohen syndrome 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 2582 of the VPS13B protein (p.Asp2582Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs773242093, ExAC 0.03%). This variant has not been reported in the literature in individuals with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 585720). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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