ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.118-2A>G

dbSNP: rs1060502981
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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 RCV000471198 SCV000551450 likely pathogenic Amelocerebrohypohidrotic syndrome 2018-09-01 criteria provided, single submitter clinical testing In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in ROGDI are known to be pathogenic (PMID: 22424600). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic. This variant has not been reported in the literature in individuals with a ROGDI-related disease. This sequence change affects an acceptor splice site in intron 2 of the ROGDI gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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