ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.2984A>G (p.Asp995Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005235934 SCV005881750 uncertain significance not provided 2024-09-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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 RCV005303535 SCV005958695 uncertain significance Inborn genetic diseases 2025-01-22 criteria provided, single submitter clinical testing The c.2984A>G (p.D995G) alteration is located in exon 29 (coding exon 29) of the VPS13A gene. This alteration results from a A to G substitution at nucleotide position 2984, causing the aspartic acid (D) at amino acid position 995 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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