ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10556T>C (p.Leu3519Ser)

dbSNP: rs1563510051
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002314586 SCV000848361 uncertain significance Inborn genetic diseases 2016-11-29 criteria provided, single submitter clinical testing The p.L3544S variant (also known as c.10631T>C), located in coding exon 55 of the VPS13B gene, results from a T to C substitution at nucleotide position 10631. The leucine at codon 3544 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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