ClinVar Miner

Submissions for variant NM_000032.5(ALAS2):c.1718C>T (p.Ser573Phe)

gnomAD frequency: 0.00046  dbSNP: rs201799139
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001485649 SCV000251121 benign not provided 2021-03-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30678654)
Illumina Laboratory Services, Illumina RCV000379555 SCV000482667 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001485649 SCV001690093 likely benign not provided 2023-10-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001485649 SCV004166918 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing ALAS2: BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001485649 SCV001798225 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001485649 SCV001966194 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003947630 SCV004772367 likely benign ALAS2-related disorder 2023-04-24 no assertion criteria provided 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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