ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) (rs148862100)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493479 SCV000581862 likely pathogenic not provided 2016-07-19 criteria provided, single submitter clinical testing The Y374C missense variant in the CLN5 gene has been reported previously in association with adult-onset neuronal ceroid lipofuscinosis (Sleat et al., 2009; Xin et al., 2010). The Y374C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Additionally, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this substitution is probably damaging to the protein structure/function. Therefore, Y374C is considered to be a pathogenic variant.
OMIM RCV000002679 SCV000022837 pathogenic Neuronal ceroid lipofuscinosis 5 2010-02-16 no assertion criteria provided literature only
Counsyl RCV000002679 SCV000800566 uncertain significance Neuronal ceroid lipofuscinosis 5 2019-06-06 no assertion criteria provided clinical testing

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