ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.4142C>A (p.Pro1381His)

dbSNP: rs1846783383
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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 RCV001304166 SCV001493438 uncertain significance Early myoclonic encephalopathy 2022-03-01 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1007034). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 1381 of the JMJD1C protein (p.Pro1381His).
Ambry Genetics RCV004036302 SCV003593772 uncertain significance not specified 2021-10-29 criteria provided, single submitter clinical testing The c.4142C>A (p.P1381H) alteration is located in exon 10 (coding exon 10) of the JMJD1C gene. This alteration results from a C to A substitution at nucleotide position 4142, causing the proline (P) at amino acid position 1381 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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