ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.971A>G (p.His324Arg)

gnomAD frequency: 0.00014  dbSNP: rs138568018
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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 RCV000862847 SCV001003409 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001165492 SCV001327691 uncertain significance Chorea-acanthocytosis 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics RCV002536239 SCV003723416 uncertain significance Inborn genetic diseases 2021-12-21 criteria provided, single submitter clinical testing The c.971A>G (p.H324R) alteration is located in exon 12 (coding exon 12) of the VPS13A gene. This alteration results from a A to G substitution at nucleotide position 971, causing the histidine (H) at amino acid position 324 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001165492 SCV001452748 uncertain significance Chorea-acanthocytosis 2020-01-24 no assertion criteria provided clinical testing

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