ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) (rs149694033)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710282 SCV000616255 uncertain significance not provided 2018-04-13 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000310297 SCV000734710 likely benign Choreoacanthocytosis no assertion criteria provided clinical testing
Fulgent Genetics,Fulgent Genetics RCV000310297 SCV000897530 uncertain significance Choreoacanthocytosis 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000516814 SCV000620702 uncertain significance not specified 2017-09-20 criteria provided, single submitter clinical testing The R1962C variant in the VPS13A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R1962C variant is observed in 331/66074 (0.5%) alleles from individuals of non-Finnish European background in large population cohorts, including 1 homozygous individual (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R1962C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, this substitution occurs at a position that is not conserved and Cysteine is seen at this position in two non-mammalian species. We interpret R1962C as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000310297 SCV000480788 uncertain significance Choreoacanthocytosis 2016-06-14 criteria provided, single submitter clinical testing

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