ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.7207A>G (p.Thr2403Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003368861 SCV004063800 uncertain significance Inborn genetic diseases 2023-07-12 criteria provided, single submitter clinical testing The c.7207A>G (p.T2403A) alteration is located in exon 52 (coding exon 52) of the VPS13A gene. This alteration results from a A to G substitution at nucleotide position 7207, causing the threonine (T) at amino acid position 2403 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Athena Diagnostics RCV003482462 SCV004229427 uncertain significance not provided 2023-02-16 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.

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