Submissions for variant NM_001097577.3(ANG):c.122A>T (p.Lys41Ile)

gnomAD frequency: 0.00091  dbSNP: rs121909536

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000019700	SCV000385374	likely benign	Amyotrophic lateral sclerosis type 9	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics	RCV001642231	SCV000612326	likely benign	not specified	2020-10-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000517735	SCV001012971	likely benign	not provided	2024-01-13	criteria provided, single submitter	clinical testing
Mendelics	RCV000019700	SCV001135064	uncertain significance	Amyotrophic lateral sclerosis type 9	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000517735	SCV001818930	likely benign	not provided	2019-12-30	criteria provided, single submitter	clinical testing	Functional analysis suggest that it disrupts protein function under certain laboratory conditions, however these results are inconsistent (Wu et al., 2007; Thiyagarajan et al., 2012); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Observed in healthy controls at the same frequency as in disease populations (van Es et al., 2011); This variant is associated with the following publications: (PMID: 19363631, 28444446, 20577002, 25382069, 22499346, 19444281, 19153377, 22522484, 23447461, 19449021, 17900154, 23047679, 17886298, 23463871, 23155438, 28430856, 22292843, 26255299, 22645277, 29895397, 19488901, 16501576, 22190368, 22384259, 23665167)
CeGaT Center for Human Genetics Tuebingen	RCV000517735	SCV004033279	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ANG: PM5, BS1
OMIM	RCV000019700	SCV000039998	pathogenic	Amyotrophic lateral sclerosis type 9	2010-08-01	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV003934843	SCV004764335	likely benign	ANG-related disorder	2020-02-20	no assertion criteria provided	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).