ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.3937A>G (p.Thr1313Ala)

gnomAD frequency: 0.00001  dbSNP: rs773518308
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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 RCV000823306 SCV000964160 uncertain significance Early myoclonic encephalopathy 2022-09-01 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 alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 665096). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is present in population databases (rs773518308, gnomAD 0.007%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 1313 of the JMJD1C protein (p.Thr1313Ala).
Ambry Genetics RCV004029140 SCV004889524 uncertain significance not specified 2023-11-13 criteria provided, single submitter clinical testing The c.3937A>G (p.T1313A) alteration is located in exon 10 (coding exon 10) of the JMJD1C gene. This alteration results from a A to G substitution at nucleotide position 3937, causing the threonine (T) at amino acid position 1313 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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