ClinVar Miner

Submissions for variant NM_153252.5(BRWD3):c.1663A>G (p.Met555Val)

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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 RCV004426518 SCV004916898 uncertain significance Inborn genetic diseases 2024-02-05 criteria provided, single submitter clinical testing The c.1663A>G (p.M555V) alteration is located in exon 17 (coding exon 17) of the BRWD3 gene. This alteration results from a A to G substitution at nucleotide position 1663, causing the methionine (M) at amino acid position 555 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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