ClinVar Miner

Submissions for variant NM_018941.3(CLN8):c.725C>T (p.Thr242Met) (rs138821993)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187128 SCV000240704 uncertain significance not specified 2014-07-28 criteria provided, single submitter clinical testing p.Thr242Met (ACG>ATG): c.725 C>T in exon 3 of the CLN8 gene (NM_018941.3): A variant of unknown significance has been identified in the CLN8 gene. The T242M variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The 1000 Genomes Database reports T242M was observed in 1/182 (0.6%) alleles from individuals of Han Chinese background and in 1/178 (0.6%) alleles from individuals of Japanese background, indicating it may be a rare variant in these populations. However, the T242M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution alters a highly conserved position in the predicted fifth transmembrane domain of the CLN8 protein. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The finding of a single missense variant of unknown clinical significance makes the molecular diagnosis inconclusive. The variant is found in EPILEPSY,INFANT-EPI panel(s).
Invitae RCV000458992 SCV000560192 likely benign Neuronal ceroid lipofuscinosis 2017-10-16 criteria provided, single submitter clinical testing

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