ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.1A>G (p.Met1Val)

dbSNP: rs2082747732
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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 RCV001348234 SCV001542528 uncertain significance Amelocerebrohypohidrotic syndrome 2023-08-04 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1044041). This variant has not been reported in the literature in individuals affected with ROGDI-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the ROGDI mRNA. The next in-frame methionine is located at codon 5.

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