ClinVar Miner

Submissions for variant NM_153252.5(BRWD3):c.3724A>G (p.Ile1242Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003147889 SCV003835315 uncertain significance Intellectual disability, X-linked 93 2022-08-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003164866 SCV003887569 uncertain significance Inborn genetic diseases 2023-05-08 criteria provided, single submitter clinical testing The c.3724A>G (p.I1242V) alteration is located in exon 32 (coding exon 32) of the BRWD3 gene. This alteration results from an A to G substitution at nucleotide position 3724, causing the isoleucine (I) at amino acid position 1242 to be replaced by a valine (V). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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