Submissions for variant NM_001099922.3(ALG13):c.104A>G (p.Asn35Ser)

gnomAD frequency: 0.00035  dbSNP: rs149808406

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001718906	SCV000720849	likely benign	not provided	2021-04-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317352	SCV000850059	uncertain significance	Inborn genetic diseases	2016-06-23	criteria provided, single submitter	clinical testing	The p.N35S variant (also known as c.104A>G), located in coding exon 2 of the ALG13 gene, results from an A to G substitution at nucleotide position 104. The asparagine at codon 35 is replaced by serine, an amino acid with highly similar properties. This variant was previously reported in the SNPDatabase as rs149808406. Based on data from the 1000 Genomes Project, the G allele has an overall frequency of approximately 0% (0/503) total male alleles studied. Based on data from the NHLBI Exome Sequencing Project (ESP), the G allele has an overall frequency of approximately 0.04% (1/2443) total male alleles studied, having been observed in 0.18% (1/571) African American male alleles. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of variant remains unclear.
Invitae	RCV001522833	SCV001732448	benign	Developmental and epileptic encephalopathy, 36	2023-12-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905613	SCV004725089	likely benign	ALG13-related condition	2021-10-12	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).