ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.2667+4G>A

gnomAD frequency: 0.00003  dbSNP: rs748465954
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001165557 SCV001327764 uncertain significance Chorea-acanthocytosis 2018-01-12 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.
Invitae RCV002558609 SCV003484168 uncertain significance not provided 2021-09-16 criteria provided, single submitter clinical testing This sequence change falls in intron 25 of the VPS13A gene. It does not directly change the encoded amino acid sequence of the VPS13A protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs748465954, ExAC 0.01%). This variant has not been reported in the literature in individuals with VPS13A-related conditions. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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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