ClinVar Miner

Submissions for variant NM_001649.4(SHROOM2):c.1789C>T (p.Arg597Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004858014 SCV005499582 uncertain significance not specified 2024-12-03 criteria provided, single submitter clinical testing The c.1789C>T (p.R597W) alteration is located in exon 4 (coding exon 4) of the SHROOM2 gene. This alteration results from a C to T substitution at nucleotide position 1789, causing the arginine (R) at amino acid position 597 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003916896 SCV004728291 likely benign SHROOM2-related disorder 2019-05-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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