ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.812A>G (p.Asn271Ser)

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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 RCV002606436 SCV003504550 uncertain significance Early myoclonic encephalopathy 2022-02-11 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 271 of the JMJD1C protein (p.Asn271Ser). 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 serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is present in population databases (rs764821897, gnomAD 0.0009%).
Ambry Genetics RCV004069084 SCV003641000 uncertain significance not specified 2022-08-03 criteria provided, single submitter clinical testing The c.812A>G (p.N271S) alteration is located in exon 6 (coding exon 6) of the JMJD1C gene. This alteration results from a A to G substitution at nucleotide position 812, causing the asparagine (N) at amino acid position 271 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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