ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) (rs886285802)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534403 SCV000628971 uncertain significance Neuronal ceroid lipofuscinosis 2020-10-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 5 of the CLN6 protein (p.Arg5Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed to segregate with neuronal ceroid lipofuscinosis in a family (PMID: 28831385). ClinVar contains an entry for this variant (Variation ID: 457969). 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: Benign; 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.
Counsyl RCV000665418 SCV000789538 uncertain significance Neuronal ceroid lipofuscinosis 6 2017-02-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675966 SCV000801695 uncertain significance not provided 2017-06-07 no assertion criteria provided clinical testing

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