Submissions for variant NM_001482.3(GATM):c.519A>G (p.Ile173Met)

dbSNP: rs796052534

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000187599	SCV000241194	uncertain significance	not provided	2012-08-10	criteria provided, single submitter	clinical testing	p.Ile173Met (ATA>ATG):c.519 A>G in exon 4 of the GATM gene (NM_001482.2). The Ile173Met missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Ile173Met in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. The amino acid substitution is conservative, as both Isoleucine and Methionine are uncharged, non-polar amino acid. Ile173Met alters a position that is not well conserved, and multiple in silico models predict Ile173Met is likely benign. The information available at this time suggests that this variant is likely non-pathogenic; however, the possibility that it is a disease-associated mutation cannot be excluded. The variant is found in CHILD-EPI panel(s).
Fulgent Genetics, Fulgent Genetics	RCV005008111	SCV005630802	uncertain significance	Arginine:glycine amidinotransferase deficiency; Fanconi renotubular syndrome 1	2024-05-03	criteria provided, single submitter	clinical testing