ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.47GCGCGG[3] (p.16GA[3])

dbSNP: rs1409904698
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187049 SCV000240622 likely benign not specified 2013-12-04 criteria provided, single submitter clinical testing The variant is found in INFANT-EPI panel(s).
Counsyl RCV000671176 SCV000796127 uncertain significance Neuronal ceroid lipofuscinosis 5 2017-12-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000795708 SCV000935178 uncertain significance Neuronal ceroid lipofuscinosis 2022-11-01 criteria provided, single submitter clinical testing This variant, c.200_205dup, results in the insertion of 2 amino acid(s) of the CLN5 protein (p.Gly67_Ala68dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs758659588, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CLN5-related conditions. ClinVar contains an entry for this variant (Variation ID: 205126). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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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