ClinVar Miner

Submissions for variant NM_000086.2(CLN3):c.152C>T (p.Ser51Phe) (rs780151271)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000594773 SCV000701894 uncertain significance not provided 2016-10-04 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765284 SCV000896537 uncertain significance Juvenile neuronal ceroid lipofuscinosis 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000801318 SCV000941091 uncertain significance Neuronal ceroid lipofuscinosis 2018-09-19 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 51 of the CLN3 protein (p.Ser51Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs780151271, ExAC 0.002%). This variant has not been reported in the literature in individuals with CLN3-related disease. ClinVar contains an entry for this variant (Variation ID: 497408). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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