ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.311C>T (p.Pro104Leu)

gnomAD frequency: 0.00004  dbSNP: rs368864187
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000812252 SCV000952560 uncertain significance Cerebral creatine deficiency syndrome 2022-08-20 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 104 of the GAMT protein (p.Pro104Leu). This variant is present in population databases (rs368864187, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with GAMT-related conditions. ClinVar contains an entry for this variant (Variation ID: 655963). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526033 SCV005040458 uncertain significance not specified 2024-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004972991 SCV005588539 uncertain significance Inborn genetic diseases 2024-08-10 criteria provided, single submitter clinical testing The c.311C>T (p.P104L) alteration is located in exon 2 (coding exon 2) of the GAMT gene. This alteration results from a C to T substitution at nucleotide position 311, causing the proline (P) at amino acid position 104 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001825626 SCV002087043 uncertain significance Deficiency of guanidinoacetate methyltransferase 2021-06-23 no assertion criteria provided clinical testing

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