ClinVar Miner

Submissions for variant NM_025219.3(DNAJC5):c.58C>T (p.Leu20Phe)

gnomAD frequency: 0.00001  dbSNP: rs796052409
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187327 SCV000240909 uncertain significance not provided 2021-05-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Invitae RCV003532047 SCV004272353 uncertain significance Neuronal ceroid lipofuscinosis 2023-10-29 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 20 of the DNAJC5 protein (p.Leu20Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DNAJC5-related conditions. ClinVar contains an entry for this variant (Variation ID: 205370). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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