ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.7195G>A (p.Val2399Ile)

gnomAD frequency: 0.00001  dbSNP: rs201653430
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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 RCV000813671 SCV000954039 uncertain significance Early myoclonic encephalopathy 2020-09-01 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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 present in population databases (rs201653430, ExAC 0.02%). This sequence change replaces valine with isoleucine at codon 2399 of the JMJD1C protein (p.Val2399Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine.
Ambry Genetics RCV004629344 SCV005127359 uncertain significance not specified 2024-03-28 criteria provided, single submitter clinical testing The c.7195G>A (p.V2399I) alteration is located in exon 23 (coding exon 23) of the JMJD1C gene. This alteration results from a G to A substitution at nucleotide position 7195, causing the valine (V) at amino acid position 2399 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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