ClinVar Miner

Submissions for variant NM_001130004.2(ACTN1):c.1018A>G (p.Thr340Ala)

dbSNP: rs2140158660
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002245468 SCV002789755 uncertain significance Platelet-type bleeding disorder 15 2021-08-10 criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245468 SCV002515738 uncertain significance Platelet-type bleeding disorder 15 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003903634 SCV004718131 uncertain significance ACTN1-related disorder 2023-11-01 no assertion criteria provided clinical testing The ACTN1 c.1018A>G variant is predicted to result in the amino acid substitution p.Thr340Ala. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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