ClinVar Miner

Submissions for variant NM_018941.3(CLN8):c.98T>C (p.Val33Ala) (rs1301388199)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768187 SCV000898618 uncertain significance Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant; Neuronal ceroid lipofuscinosis 8 2017-09-01 criteria provided, single submitter clinical testing CLN8 NM_018941.3 exon2 p.Val33Ala (c.98T>C): This variant has not been reported in the literature and is not present in large control databases. The variant Alanine (Ala) amino acid is present in several species (Tibetan Antelope, Cow, Sheep, Horse, Ferret, Atlantic Cod, and Lamprey) and this position is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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