ClinVar Miner

Submissions for variant NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) (rs387906863)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779372 SCV000915973 uncertain significance PLA2G6-associated neurodegeneration 2018-11-26 criteria provided, single submitter clinical testing The PLA2G6 c.1904G>A (p.Arg635Gln) missense variant has been reported in a compound heterozygous state in three Japanese individuals with early-onset (<30 years) parkinsonism with dementia and frontotemporal lobar atrophy (Yoshino et al. 2010). Two of these individuals were brothers, and all three shared a common haplotype. This variant was also reported in a homozygous state in a Japanese individual with adult-onset (age 66 years) spastic paraplegia with parkinsonism (Koh et al. 2018). This individual had an older sibling with a similar phenotype, but the sibling did not undergo genetic testing. The p.Arg635Gln variant was identified in one out of 2722 Japanese control chromosomes and is reported at a frequency of 0.000738 in the East Asian population of the Exome Aggregation Consortium. This frequency is based on one allele in a region of good sequencing coverage, so the variant is presumed to be rare. The evidence for this variant is limited. The p.Arg635Gln variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for PLA2G6-associated neurodegeneration. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
OMIM RCV000023314 SCV000044605 pathogenic Parkinson disease 14 2010-10-12 no assertion criteria provided literature only

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