ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.1A>C (p.Met1Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002909606 SCV003255274 uncertain significance Mitochondrial DNA depletion syndrome 9 2023-04-24 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.008%). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 2049235). This variant has not been reported in the literature in individuals affected with SUCLG1-related conditions. This sequence change affects the initiator methionine of the SUCLG1 mRNA. The next in-frame methionine is located at codon 14.

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