ClinVar Miner

Submissions for variant NM_020717.5(SHROOM4):c.437G>A (p.Arg146Gln)

gnomAD frequency: 0.00011  dbSNP: rs199603614
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817357 SCV002065535 benign not specified 2017-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001817357 SCV003703496 uncertain significance not specified 2021-09-16 criteria provided, single submitter clinical testing The c.437G>A (p.R146Q) alteration is located in exon 4 (coding exon 4) of the SHROOM4 gene. This alteration results from a G to A substitution at nucleotide position 437, causing the arginine (R) at amino acid position 146 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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