ClinVar Miner

Submissions for variant NM_153252.5(BRWD3):c.4791G>T (p.Glu1597Asp)

dbSNP: rs2520199820
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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 RCV002837069 SCV003616799 uncertain significance Inborn genetic diseases 2022-05-16 criteria provided, single submitter clinical testing The c.4791G>T (p.E1597D) alteration is located in exon 41 (coding exon 41) of the BRWD3 gene. This alteration results from a G to T substitution at nucleotide position 4791, causing the glutamic acid (E) at amino acid position 1597 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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