ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.3954G>T (p.Met1318Ile)

gnomAD frequency: 0.00001  dbSNP: rs1846809888
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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 RCV001347613 SCV001541883 uncertain significance Early myoclonic encephalopathy 2020-03-18 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with JMJD1C-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with isoleucine at codon 1318 of the JMJD1C protein (p.Met1318Ile). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and isoleucine.
Ambry Genetics RCV004036525 SCV003631018 uncertain significance not specified 2022-07-12 criteria provided, single submitter clinical testing The c.3954G>T (p.M1318I) alteration is located in exon 10 (coding exon 10) of the JMJD1C gene. This alteration results from a G to T substitution at nucleotide position 3954, causing the methionine (M) at amino acid position 1318 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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