ClinVar Miner

Submissions for variant NM_024664.4(PPCS):c.397A>T (p.Arg133Trp)

gnomAD frequency: 0.00039  dbSNP: rs199807362
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002023072 SCV002305837 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002548213 SCV003736525 uncertain significance Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.397A>T (p.R133W) alteration is located in exon 1 (coding exon 1) of the PPCS gene. This alteration results from a A to T substitution at nucleotide position 397, causing the arginine (R) at amino acid position 133 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV002023072 SCV005411796 uncertain significance not provided 2024-03-12 criteria provided, single submitter clinical testing BP4

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