ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.3G>A (p.Met1Ile)

gnomAD frequency: 0.00001  dbSNP: rs1017500720
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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 RCV001893359 SCV002163883 uncertain significance Mosaic variegated aneuploidy syndrome 2 2023-02-25 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the CEP57 mRNA. The next in-frame methionine is located at codon 28. This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CEP57-related conditions. ClinVar contains an entry for this variant (Variation ID: 1391979). 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.

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