ClinVar Miner

Submissions for variant NM_001379451.1(BCORL1):c.2365C>T (p.Arg789Cys)

gnomAD frequency: 0.00008  dbSNP: rs371862075
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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 RCV002272669 SCV002556647 uncertain significance Shukla-Vernon syndrome 2021-04-15 criteria provided, single submitter clinical testing The BCORL1 c.2365C>T variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE (PP3) The BCORL1 c.2365C>T variant is a single nucleotide change in exon 3 of the BCORL1 gene, which is predicted to change the amino acid arginine at position 789 in the protein to cysteine. This variant is in dbSNP (rs371862075) and has been reported in population databases (gnomAD ALL: 12 / 205167 alleles, 4 hemizygotes, no homozygotes). It has not been reported in the ClinVar or HGMD disease databases. Computational predictions support a deleterious effect on the gene or gene product (PP3).

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