ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.103G>A (p.Asp35Asn)

gnomAD frequency: 0.00004  dbSNP: rs533231370
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001551476 SCV001771996 likely benign not provided 2020-04-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002032586 SCV002233445 uncertain significance Neuronal ceroid lipofuscinosis 2021-12-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 35 of the CLN6 protein (p.Asp35Asn). This variant is present in population databases (rs533231370, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CLN6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1190672). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002388586 SCV002700872 uncertain significance Inborn genetic diseases 2017-12-17 criteria provided, single submitter clinical testing The p.D35N variant (also known as c.103G>A), located in coding exon 2 of the CLN6 gene, results from a G to A substitution at nucleotide position 103. The aspartic acid at codon 35 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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