ClinVar Miner

Submissions for variant NM_000032.5(ALAS2):c.-34C>T

gnomAD frequency: 0.00028  dbSNP: rs780642606
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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 RCV000383961 SCV000482687 likely benign X-linked sideroblastic anemia 1 2017-04-28 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.
GeneDx RCV001575679 SCV001802728 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing Described as hemizygous in an individual with adult-onset iron overload in heart and liver tissue, however his healthy brother was also hemizygous (Lee et al., 2009).; Nucleotide substitution occurs at a position that is conserved across species. However, in the absence of RNA studies, the function of this variant is unclear.; This variant is associated with the following publications: (PMID: 18823803, 23315997)
Mendelics RCV002248635 SCV002516855 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing

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