ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.5324A>G (p.Asp1775Gly) (rs767031340)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719584 SCV000850453 uncertain significance History of neurodevelopmental disorder 2019-06-19 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001066924 SCV001231948 uncertain significance Cohen syndrome 2019-06-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 1775 of the VPS13B protein (p.Asp1775Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs767031340, ExAC 0.009%). This variant has not been reported in the literature in individuals with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 589523). 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: "Probably Damaging"; Align-GVGD: Not Available). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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