ClinVar Miner

Submissions for variant NM_001130004.2(ACTN1):c.1349G>A (p.Arg450His)

dbSNP: rs751173836
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hematology laboratory, Robert Debré Hospital RCV000824966 SCV000966142 likely pathogenic Platelet-type bleeding disorder 15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003768547 SCV004632401 uncertain significance not provided 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 450 of the ACTN1 protein (p.Arg450His). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with thrombocytopenia (PMID: 31237726). ClinVar contains an entry for this variant (Variation ID: 666547). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Not available) indicates that this missense variant is expected to disrupt ACTN1 function with a positive predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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