ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.1703A>G (p.Asp568Gly)

dbSNP: rs201464655
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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 RCV001339426 SCV001533167 uncertain significance Early myoclonic encephalopathy 2021-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035898 SCV003587360 uncertain significance not specified 2021-12-03 criteria provided, single submitter clinical testing The c.1703A>G (p.D568G) alteration is located in exon 8 (coding exon 8) of the JMJD1C gene. This alteration results from a A to G substitution at nucleotide position 1703, causing the aspartic acid (D) at amino acid position 568 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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