ClinVar Miner

Submissions for variant NM_005014.3(OMD):c.1228G>A (p.Gly410Arg)

gnomAD frequency: 0.00003  dbSNP: rs189375297
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004499184 SCV004995298 uncertain significance not specified 2023-09-22 criteria provided, single submitter clinical testing The c.1228G>A (p.G410R) alteration is located in exon 3 (coding exon 2) of the OMD gene. This alteration results from a G to A substitution at nucleotide position 1228, causing the glycine (G) at amino acid position 410 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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