ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.9274C>T (p.Arg3092Cys)

gnomAD frequency: 0.00057  dbSNP: rs146574121
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861959 SCV001002381 likely benign not provided 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000861959 SCV001785030 uncertain significance not provided 2024-12-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002538906 SCV003711548 uncertain significance Inborn genetic diseases 2022-12-01 criteria provided, single submitter clinical testing The c.9274C>T (p.R3092C) alteration is located in exon 69 (coding exon 69) of the VPS13A gene. This alteration results from a C to T substitution at nucleotide position 9274, causing the arginine (R) at amino acid position 3092 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001274607 SCV001458891 likely benign Chorea-acanthocytosis 2020-04-11 no assertion criteria provided clinical testing

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