ClinVar Miner

Submissions for variant NM_025219.3(DNAJC5):c.340G>A (p.Gly114Ser)

gnomAD frequency: 0.00003  dbSNP: rs995618637
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001350738 SCV001545154 uncertain significance Neuronal ceroid lipofuscinosis 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 114 of the DNAJC5 protein (p.Gly114Ser). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 1046215). 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.
Ambry Genetics RCV002456526 SCV002614368 uncertain significance Inborn genetic diseases 2017-12-27 criteria provided, single submitter clinical testing The p.G114S variant (also known as c.340G>A), located in coding exon 3 of the DNAJC5 gene, results from a G to A substitution at nucleotide position 340. The glycine at codon 114 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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