ClinVar Miner

Submissions for variant NM_020717.5(SHROOM4):c.769C>T (p.Arg257Cys)

gnomAD frequency: 0.00001  dbSNP: rs1064796301
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483678 SCV000572882 uncertain significance not provided 2017-02-10 criteria provided, single submitter clinical testing The R257C variant in the SHROOM4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R257C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. We interpret R257C as a variant of uncertain significance.
CeGaT Center for Human Genetics Tuebingen RCV000483678 SCV004166372 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing SHROOM4: BP4

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