ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.311C>A (p.Ser104Tyr)

gnomAD frequency: 0.00001  dbSNP: rs777921628
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247994 SCV001421453 uncertain significance Neuronal ceroid lipofuscinosis 2022-02-08 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 104 of the CLN6 protein (p.Ser104Tyr). This variant is present in population databases (rs777921628, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CLN6-related conditions. ClinVar contains an entry for this variant (Variation ID: 559017). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000675963 SCV000801692 uncertain significance not provided 2017-09-06 no assertion criteria provided clinical testing

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