ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.34C>T (p.Arg12Trp)

gnomAD frequency: 0.00001  dbSNP: rs867005426
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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 RCV001206531 SCV001377842 uncertain significance Amelocerebrohypohidrotic syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 12 of the ROGDI protein (p.Arg12Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with ROGDI-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.
Ambry Genetics RCV002561229 SCV003614693 uncertain significance Inborn genetic diseases 2022-03-16 criteria provided, single submitter clinical testing The c.34C>T (p.R12W) alteration is located in exon 1 (coding exon 1) of the ROGDI gene. This alteration results from a C to T substitution at nucleotide position 34, causing the arginine (R) at amino acid position 12 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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