ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.145T>C (p.Ser49Pro)

dbSNP: rs796052537
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187605 SCV000241200 uncertain significance not provided 2014-06-13 criteria provided, single submitter clinical testing p.Ser49Pro (TCC>CCC): c.145 T>C in exon 2 of the GATM gene (NM_001482.2). The S49P variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The S49P 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. This substitution occurs at a position that is conserved in mammals. However, in silico analysis predicts the S49P variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
Fulgent Genetics, Fulgent Genetics RCV005008112 SCV005630822 uncertain significance Arginine:glycine amidinotransferase deficiency; Fanconi renotubular syndrome 1 2024-06-07 criteria provided, single submitter clinical testing

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