ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.50A>G (p.Asp17Gly)

gnomAD frequency: 0.00019  dbSNP: rs148668081
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187135 SCV000240711 uncertain significance not provided 2024-01-23 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
Ambry Genetics RCV002314706 SCV000848132 uncertain significance Inborn genetic diseases 2025-01-16 criteria provided, single submitter clinical testing The c.50A>G (p.D17G) alteration is located in exon 2 (coding exon 1) of the CLN8 gene. This alteration results from a A to G substitution at nucleotide position 50, causing the aspartic acid (D) at amino acid position 17 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000823172 SCV000964021 uncertain significance Neuronal ceroid lipofuscinosis 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 17 of the CLN8 protein (p.Asp17Gly). This variant is present in population databases (rs148668081, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with CLN8-related conditions. ClinVar contains an entry for this variant (Variation ID: 205201). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CLN8 protein function. 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.
GenomeConnect, ClinGen RCV000509429 SCV000606932 not provided Neuronal ceroid lipofuscinosis 8 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Natera, Inc. RCV000509429 SCV002083145 uncertain significance Neuronal ceroid lipofuscinosis 8 2020-02-04 no assertion criteria provided clinical testing

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