ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.775G>C (p.Gly259Arg) (rs150363441)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd RCV000203548 SCV000258913 uncertain significance Neuronal ceroid lipofuscinosis 6 criteria provided, single submitter clinical testing This is a novel homozygous variant in the CLN6 gene that has not been reported in a disease context. However, two other variations affecting the codon 259 have been reported. The missense variation p.Gly259Ser was found in the homozygous state in a 3.5 year old Indian child affected with late infantile NCL [PMID:21990111]. Another homozygous variation, p.Gly259Val, was identified in a 2 year old Italian child diagnosed with NCL and characterized by ataxia, epilepsy, visual impairment and curvilinear bodies/fingerprint profiles.The variation was found to segregate within the family, was absent in 250 controls, and was thus suspected to be the causative variant [PMID:19135028].

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