ClinVar Miner

Submissions for variant NM_000086.2(CLN3):c.771G>C (p.Glu257Asp) (rs73533466)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000592612 SCV000702002 uncertain significance not provided 2016-10-13 criteria provided, single submitter clinical testing
Invitae RCV001069649 SCV001234832 uncertain significance Neuronal ceroid lipofuscinosis 2019-12-22 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 257 of the CLN3 protein (p.Glu257Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CLN3-related conditions. ClinVar contains an entry for this variant (Variation ID: 497479). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Natera Inc RCV001027942 SCV001190672 uncertain significance Juvenile neuronal ceroid lipofuscinosis 2019-05-20 no assertion criteria provided clinical testing
New York Genome Center RCV000592612 SCV001431198 uncertain significance not provided 2020-02-13 no assertion criteria provided clinical testing

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