ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.104C>A (p.Thr35Asn)

gnomAD frequency: 0.00001  dbSNP: rs1331986925
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001972102 SCV002207954 uncertain significance Arginine:glycine amidinotransferase deficiency 2022-03-18 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 35 of the GATM protein (p.Thr35Asn). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with GATM-related conditions. 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: "Benign"; 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.
Fulgent Genetics, Fulgent Genetics RCV002492009 SCV002800111 uncertain significance Arginine:glycine amidinotransferase deficiency; Fanconi renotubular syndrome 1 2021-08-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002561516 SCV003552546 uncertain significance Inborn genetic diseases 2021-01-27 criteria provided, single submitter clinical testing The c.104C>A (p.T35N) alteration is located in exon 2 (coding exon 2) of the GATM gene. This alteration results from a C to A substitution at nucleotide position 104, causing the threonine (T) at amino acid position 35 to be replaced by an asparagine (N). The p.T35N alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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