ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.179A>G (p.Lys60Arg)

gnomAD frequency: 0.00001  dbSNP: rs1228556317
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689355 SCV000817003 uncertain significance Cerebral creatine deficiency syndrome 2022-05-26 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 60 of the GAMT protein (p.Lys60Arg). This variant is not present in population databases (gnomAD no frequency). 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: 568865). 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 arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Natera, Inc. RCV001830498 SCV002087054 uncertain significance Deficiency of guanidinoacetate methyltransferase 2020-09-03 no assertion criteria provided clinical testing

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