ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.685C>G (p.Pro229Ala)

gnomAD frequency: 0.00893  dbSNP: rs150047904
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000116763 SCV000113908 benign not specified 2014-06-19 criteria provided, single submitter clinical testing
GeneDx RCV000224571 SCV000167775 benign not provided 2018-12-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533, 21990111)
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224571 SCV000281471 benign not provided 2016-05-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000226970 SCV000290465 benign Neuronal ceroid lipofuscinosis 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000116763 SCV000313279 benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000671702 SCV000796703 benign Neuronal ceroid lipofuscinosis 8 2017-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311692 SCV000846886 benign Inborn genetic diseases 2016-02-25 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001258280 SCV001435205 benign Central core myopathy criteria provided, single submitter research The homozygous p.Pro229Ala variant in CLN8 has been identified in 1 Mexican and 1 Argentinian individual with late infantile neuronal ceroid lipofuscinosis (PMID: 21990111). However, this variant is classified as benign for autosomal recessive neuronal ceroid lipofuscinosis because it has been identified in >5% of Latino chromosomes and 93 total homozygotes by ExAC (http://gnomad.broadinstitute.org/).
Athena Diagnostics RCV000116763 SCV001475016 benign not specified 2020-03-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000224571 SCV005269642 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116763 SCV000150739 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Laboratories, Mayo Clinic RCV000224571 SCV000801856 uncertain significance not provided 2015-12-15 no assertion criteria provided clinical testing
Natera, Inc. RCV000671702 SCV001456330 benign Neuronal ceroid lipofuscinosis 8 2020-09-16 no assertion criteria provided clinical testing

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