ClinVar Miner

Submissions for variant NM_000086.2(CLN3):c.734_736del (p.Ala245del) (rs776966610)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187038 SCV000240611 uncertain significance not provided 2018-03-12 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CLN3 gene. The c.734_736delCAG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.734_736delCAG variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The c.734_736delCAG variant results in an in-frame deletion of a single Alanine residue, denoted p.Ala245del. However, this deletion occurs at a position that is not conserved. To our knowledge, in-frame deletions have not been reported in the CLN3 gene in association with juvenile neuronal ceroid lipofuscinosis (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000538766 SCV000628937 uncertain significance Neuronal ceroid lipofuscinosis 2018-11-26 criteria provided, single submitter clinical testing This variant, c.734_736delCAG, results in the deletion of 1 amino acid(s) of the CLN3 protein (p.Ala245del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs776966610, ExAC 0.02%). This variant has not been reported in the literature in individuals with CLN3-related disease. ClinVar contains an entry for this variant (Variation ID: 205115). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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