ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.509A>C (p.Asn170Thr)

gnomAD frequency: 0.00003  dbSNP: rs202199674
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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 RCV000822400 SCV000963200 uncertain significance Cerebral creatine deficiency syndrome 2022-02-04 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 170 of the GAMT protein (p.Asn170Thr). This variant is present in population databases (rs202199674, gnomAD 0.009%). 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: 664322). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. RCV001830817 SCV002087021 uncertain significance Deficiency of guanidinoacetate methyltransferase 2020-08-10 no assertion criteria provided clinical testing

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