ClinVar Miner

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

gnomAD frequency: 0.00091  dbSNP: rs121909536
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Total submissions: 8
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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 Inc RCV001642231 SCV000612326 likely benign not specified 2020-10-26 criteria provided, single submitter clinical testing
Invitae 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
PreventionGenetics, part of Exact Sciences RCV003934843 SCV004764335 likely benign ANG-related condition 2020-02-20 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).
OMIM RCV000019700 SCV000039998 pathogenic Amyotrophic lateral sclerosis type 9 2010-08-01 no assertion criteria provided literature only

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