ClinVar Miner

Submissions for variant NM_025219.3(DNAJC5):c.509C>T (p.Pro170Leu)

gnomAD frequency: 0.00003  dbSNP: rs770758533
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706226 SCV000835265 uncertain significance Neuronal ceroid lipofuscinosis 2019-09-14 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DNAJC5-related disease. This variant is present in population databases (rs770758533, ExAC 0.008%). This sequence change replaces proline with leucine at codon 170 of the DNAJC5 protein (p.Pro170Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.
GeneDx RCV001766562 SCV002000789 uncertain significance not provided 2020-02-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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