ClinVar Miner

Submissions for variant NM_001003694.2(BRPF1):c.363G>C (p.Glu121Asp)

dbSNP: rs2471447119
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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 RCV002916469 SCV003657024 uncertain significance Inborn genetic diseases 2022-11-10 criteria provided, single submitter clinical testing The c.363G>C (p.E121D) alteration is located in exon 2 (coding exon 1) of the BRPF1 gene. This alteration results from a G to C substitution at nucleotide position 363, causing the glutamic acid (E) at amino acid position 121 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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