ClinVar Miner

Submissions for variant NM_001012759.3(CTU2):c.199C>T (p.Arg67Trp)

gnomAD frequency: 0.00004  dbSNP: rs200836148
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004080436 SCV003544567 uncertain significance not specified 2022-11-08 criteria provided, single submitter clinical testing The c.199C>T (p.R67W) alteration is located in exon 3 (coding exon 3) of the CTU2 gene. This alteration results from a C to T substitution at nucleotide position 199, causing the arginine (R) at amino acid position 67 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004798024 SCV005419791 uncertain significance not provided 2024-05-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005021673 SCV005646335 likely pathogenic Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 2024-03-21 criteria provided, single submitter clinical testing

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