ClinVar Miner

Submissions for variant NM_003620.4(PPM1D):c.267C>G (p.Ser89Arg)

dbSNP: rs900654745
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001837253 SCV002097765 uncertain significance Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 2021-01-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003698879 SCV004468769 uncertain significance not provided 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 89 of the PPM1D protein (p.Ser89Arg). This variant is present in population databases (no rsID available, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PPM1D-related conditions. ClinVar contains an entry for this variant (Variation ID: 1341773). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004041021 SCV005008400 uncertain significance Inborn genetic diseases 2024-01-12 criteria provided, single submitter clinical testing The c.267C>G (p.S89R) alteration is located in exon 1 (coding exon 1) of the PPM1D gene. This alteration results from a C to G substitution at nucleotide position 267, causing the serine (S) at amino acid position 89 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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