ClinVar Miner

Submissions for variant NM_145654.4(RDM1):c.742G>A (p.Gly248Ser)

gnomAD frequency: 0.00003  dbSNP: rs202104033
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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 RCV004188315 SCV003679025 uncertain significance not specified 2021-08-10 criteria provided, single submitter clinical testing The c.742G>A (p.G248S) alteration is located in exon 6 (coding exon 6) of the RDM1 gene. This alteration results from a G to A substitution at nucleotide position 742, causing the glycine (G) at amino acid position 248 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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