ClinVar Miner

Submissions for variant NM_025215.6(PUS1):c.1A>G (p.Met1Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003076850 SCV003453697 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the PUS1 mRNA. The next in-frame methionine is located at codon 29. This variant is present in population databases (rs761456442, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with PUS1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Fulgent Genetics, Fulgent Genetics RCV005010942 SCV005634206 likely pathogenic Myopathy, lactic acidosis, and sideroblastic anemia 1 2024-01-10 criteria provided, single submitter clinical testing

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