ClinVar Miner

Submissions for variant NM_001379451.1(BCORL1):c.5041C>T (p.Pro1681Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447761 SCV004175475 uncertain significance Shukla-Vernon syndrome 2023-03-23 criteria provided, single submitter clinical testing The BCORL1 c.5041C>T variant is classified as VUS (PM2) The BCORL1 c.5041C>T variant is a single nucleotide change in exon 13/14 of the BCORL1 gene, which is predicted to change the amino acid proline at position 1681 in the protein to serine. This variant is absent from population databases (PM2). The variant has been reported in dbSNP (rs755547824). It has not been reported in ClinVar or HGMD.

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