ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.3569G>A (p.Gly1190Asp)

dbSNP: rs1557680919
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001816689 SCV002067483 likely pathogenic not provided 2020-04-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001816689 SCV002978509 pathogenic not provided 2022-11-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt VPS13D protein function. ClinVar contains an entry for this variant (Variation ID: 561198). This missense change has been observed in individual(s) with VPS13D-related conditions (PMID: 29604224). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1190 of the VPS13D protein (p.Gly1190Asp).
OMIM RCV000680228 SCV000807682 pathogenic Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 2018-09-14 no assertion criteria provided literature only

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