ClinVar Miner

Submissions for variant NM_000032.5(ALAS2):c.1560C>A (p.Pro520=)

gnomAD frequency: 0.00362  dbSNP: rs150055592
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197497 SCV000251119 benign not specified 2014-06-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina RCV000291203 SCV000482671 benign X-linked sideroblastic anemia 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genetic Services Laboratory, University of Chicago RCV000197497 SCV000593088 benign not specified 2018-11-25 criteria provided, single submitter clinical testing
Invitae RCV000955055 SCV001101736 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000955055 SCV001150325 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000291203 SCV001623020 benign X-linked sideroblastic anemia 1 2021-05-18 criteria provided, single submitter clinical testing

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