ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.1840C>T (p.His614Tyr)

gnomAD frequency: 0.00003  dbSNP: rs779543715
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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 RCV000822084 SCV000962870 uncertain significance Early myoclonic encephalopathy 2022-07-25 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 614 of the JMJD1C protein (p.His614Tyr). This variant is present in population databases (rs779543715, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 664071).
Ambry Genetics RCV004629354 SCV005127355 uncertain significance not specified 2024-03-26 criteria provided, single submitter clinical testing The c.1840C>T (p.H614Y) alteration is located in exon 8 (coding exon 8) of the JMJD1C gene. This alteration results from a C to T substitution at nucleotide position 1840, causing the histidine (H) at amino acid position 614 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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