ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.152G>A (p.Arg51His)

gnomAD frequency: 0.00006  dbSNP: rs367952803
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725568 SCV000337848 uncertain significance not provided 2015-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000725568 SCV000571078 uncertain significance not provided 2022-12-06 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); 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
Ambry Genetics RCV002314014 SCV000848372 uncertain significance Inborn genetic diseases 2021-11-09 criteria provided, single submitter clinical testing The c.299G>A (p.R100H) alteration is located in exon 1 (coding exon 1) of the CLN5 gene. This alteration results from a G to A substitution at nucleotide position 299, causing the arginine (R) at amino acid position 100 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001047274 SCV001211218 uncertain significance Neuronal ceroid lipofuscinosis 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 100 of the CLN5 protein (p.Arg100His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CLN5-related conditions. ClinVar contains an entry for this variant (Variation ID: 285012). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Baylor Genetics RCV001275302 SCV001530513 uncertain significance Neuronal ceroid lipofuscinosis 5 2018-01-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV001275302 SCV002027057 uncertain significance Neuronal ceroid lipofuscinosis 5 2021-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001275302 SCV002816188 uncertain significance Neuronal ceroid lipofuscinosis 5 2021-08-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275302 SCV001460317 uncertain significance Neuronal ceroid lipofuscinosis 5 2020-04-16 no assertion criteria provided clinical testing

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