ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala)

gnomAD frequency: 0.00034  dbSNP: rs139589527
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000878495 SCV000453176 likely benign Amyotrophic lateral sclerosis type 21 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.
Invitae RCV000878495 SCV001021412 likely benign Amyotrophic lateral sclerosis type 21 2023-12-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000878495 SCV003808295 uncertain significance Amyotrophic lateral sclerosis type 21 2019-12-16 criteria provided, single submitter clinical testing

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