ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.569A>G (p.Asn190Ser)

gnomAD frequency: 0.00007  dbSNP: rs369100769
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187073 SCV000240648 uncertain significance not provided 2020-01-07 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000473641 SCV000549217 uncertain significance Neuronal ceroid lipofuscinosis 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 239 of the CLN5 protein (p.Asn239Ser). This variant is present in population databases (rs369100769, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CLN5-related conditions. ClinVar contains an entry for this variant (Variation ID: 205147). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CLN5 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Genome-Nilou Lab RCV001275304 SCV002027068 uncertain significance Neuronal ceroid lipofuscinosis 5 2021-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001275304 SCV002775635 uncertain significance Neuronal ceroid lipofuscinosis 5 2021-09-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275304 SCV001460323 uncertain significance Neuronal ceroid lipofuscinosis 5 2020-04-16 no assertion criteria provided clinical testing

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