ClinVar Miner

Submissions for variant NM_153252.5(BRWD3):c.4370G>A (p.Ser1457Asn)

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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 RCV004970194 SCV005553190 uncertain significance Inborn genetic diseases 2024-07-14 criteria provided, single submitter clinical testing The c.4370G>A (p.S1457N) alteration is located in exon 38 (coding exon 38) of the BRWD3 gene. This alteration results from a G to A substitution at nucleotide position 4370, causing the serine (S) at amino acid position 1457 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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