ClinVar Miner

Submissions for variant NM_000032.5(ALAS2):c.1676G>A (p.Arg559His)

gnomAD frequency: 0.00158  dbSNP: rs145704441
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000958807 SCV000251120 likely benign not provided 2021-01-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26562225, 21653323, 22995991, 15678587, 22740690, 30678654, 22269113, 20848343, 15678585, 16121195)
Illumina Laboratory Services, Illumina RCV000285314 SCV000482668 likely benign X-linked sideroblastic anemia 1 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.
Genetic Services Laboratory, University of Chicago RCV000200067 SCV000593087 likely benign not specified 2017-05-22 criteria provided, single submitter clinical testing
Invitae RCV000958807 SCV001105683 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927836 SCV004747855 likely benign ALAS2-related condition 2020-10-12 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).

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