ClinVar Miner

Submissions for variant NM_153252.5(BRWD3):c.3785G>A (p.Arg1262Gln)

gnomAD frequency: 0.00001  dbSNP: rs775682673
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004531689 SCV004114907 uncertain significance BRWD3-related disorder 2022-09-21 criteria provided, single submitter clinical testing The BRWD3 c.3785G>A variant is predicted to result in the amino acid substitution p.Arg1262Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.034% of alleles in individuals of East Asian descent in gnomAD, including 4 hemizygous observations (http://gnomad.broadinstitute.org/variant/X-79945289-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV005062898 SCV005694763 benign not provided 2024-12-12 criteria provided, single submitter clinical testing

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