ClinVar Miner

Submissions for variant NM_001519.4(BRF1):c.566G>T (p.Arg189Leu)

dbSNP: rs777141032
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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 RCV002714013 SCV003571308 uncertain significance Inborn genetic diseases 2021-07-26 criteria provided, single submitter clinical testing The c.566G>T (p.R189L) alteration is located in exon 6 (coding exon 6) of the BRF1 gene. This alteration results from a G to T substitution at nucleotide position 566, causing the arginine (R) at amino acid position 189 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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