Submissions for variant NM_003098.3(SNTA1):c.364G>A (p.Ala122Thr)

gnomAD frequency: 0.00001  dbSNP: rs151113230

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000171111	SCV000223676	uncertain significance	not provided	2012-08-12	criteria provided, single submitter	clinical testing	The Ala122Thr variant in the SNTA1 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Ala122Thr results in a non-conservative amino acid substitution of a non-polar Alanine with a neutral, polar Threonine at a position that is conserved across species. Ala122Thr was not observed with a significant allele frequency in individuals of European or African American ancestry as reported by the NHLBI ESP Exome Variant Server. However, no pathogenic mutations have been reported in this region of the SNTA1 gene to date. In summary, the clinical significance of the Ala122Thr variant in the SNTA1 gene is currently unknown. The pathogenic role for this variant would be supported if it occurred de novo in an individual or if it co-segregates, independently of the KCNH2 mutation, with a LQTS phenotype in a family. The variant is found in LQT panel(s).
Ambry Genetics	RCV002345576	SCV002618942	uncertain significance	Cardiovascular phenotype	2020-01-15	criteria provided, single submitter	clinical testing	The p.A122T variant (also known as c.364G>A), located in coding exon 2 of the SNTA1 gene, results from a G to A substitution at nucleotide position 364. The alanine at codon 122 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.