ClinVar Miner

Submissions for variant NM_001519.4(BRF1):c.875C>T (p.Pro292Leu)

dbSNP: rs606231450
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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 RCV002697520 SCV003546867 uncertain significance Inborn genetic diseases 2021-03-22 criteria provided, single submitter clinical testing The c.875C>T (p.P292L) alteration is located in exon 8 (coding exon 8) of the BRF1 gene. This alteration results from a C to T substitution at nucleotide position 875, causing the proline (P) at amino acid position 292 to be replaced by a leucine (L). The p.P292L alteration is predicted to be deleterious by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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