Submissions for variant NM_201631.4(TGM5):c.723C>G (p.Asn241Lys)

gnomAD frequency: 0.00367  dbSNP: rs35578968

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000319229	SCV000391241	likely benign	Acral peeling skin syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Ambry Genetics	RCV002520959	SCV003734715	uncertain significance	Inborn genetic diseases	2022-04-08	criteria provided, single submitter	clinical testing	The c.723C>G (p.N241K) alteration is located in exon 6 (coding exon 6) of the TGM5 gene. This alteration results from a C to G substitution at nucleotide position 723, causing the asparagine (N) at amino acid position 241 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003910191	SCV004720614	benign	TGM5-related condition	2019-07-26	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).