ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.7893A>T (p.Arg2631Ser)

gnomAD frequency: 0.00004  dbSNP: rs1030203279
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000993927 SCV001147164 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002550658 SCV003587157 uncertain significance Inborn genetic diseases 2022-10-05 criteria provided, single submitter clinical testing The c.7893A>T (p.R2631S) alteration is located in exon 34 (coding exon 33) of the VPS13D gene. This alteration results from a A to T substitution at nucleotide position 7893, causing the arginine (R) at amino acid position 2631 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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