ClinVar Miner

Submissions for variant NM_018941.3(CLN8):c.709G>A (p.Gly237Arg) (rs746645358)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169279 SCV000220586 likely pathogenic Ceroid lipofuscinosis neuronal 8 2014-08-12 criteria provided, single submitter literature only
GeneDx RCV000187126 SCV000240702 likely pathogenic not provided 2017-07-06 criteria provided, single submitter clinical testing The Gly237Arg missense variant in the CLN8 gene has been previously reported as a homozygous variant in two individuals with a clinical phenotype suggestive of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) (Reinhardt et al., 2010). Gly237Arg is a non-conservative amino acid substitution as a uncharged non-polar Glycine residue is replaced by a positively charged Arginine residue. In addition, Gly237Arg alters a conserved position in the fifth transmembrane domain of the CLN8 protein.

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