ClinVar Miner

Submissions for variant NM_004980.4(KCND3):c.257G>A (p.Arg86Gln) (rs1571941606)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000850227 SCV000965586 uncertain significance Spinocerebellar ataxia type 19/22 2019-06-11 criteria provided, single submitter clinical testing A heterozygous variant c.257G>A (p.Arg86Gln) in exon-2 has been observed in KCND3 gene. The proband, born of a non-consanguineous marriage, presented with clinical indication of short-term memory loss from past 5 years, repetitive behavior, low mood, loss of spatiotemporal awareness and involuntary muscle movements. His brain MRI showed dilatation of the ventricular system with a prominence of basal cisterns, sulci and cerebellar folia more at bilateral frontal basal, anterior parahippocampal and insular cortex region more on the left side. His sister is affected with delusions and there is paternal history of similar symptoms. The variant has not been reported in the 1000 genomes and ExAC databases. The in-silico predictions of the variant are probably damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT and MutationTaster2. In summary, the said variant meets our criteria to be classified as uncertain significance based on the mode of inheritance, in silico prediction, allele frequency in population databases and lack of segregation study.

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