ClinVar Miner

Submissions for variant NM_000717.5(CA4):c.258C>T (p.Asn86=)

gnomAD frequency: 0.00019  dbSNP: rs185476073
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000398754 SCV000404388 uncertain significance Retinitis pigmentosa 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507639 SCV000602904 likely benign not provided 2017-05-29 criteria provided, single submitter clinical testing The CA4 c.258C>T;p.Asn86Asn variant has not been described in the medical literature or in gene-specific databases. The variant is listed in the ClinVar database (Variation ID: 324229) and the dbSNP variant database (rs185476073) with an allele frequency of 0.0231 percent in the Exome Variant Server and 0.01325 percent in the Genome Aggregation Database. The nucleotide at this position is not conserved across species (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, Human Splicing Finder) do not predict a significant change to splicing. Considering available information, this variant is classified as likely benign.
Invitae RCV000507639 SCV001704863 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000507639 SCV004145794 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing CA4: BP4, BP7
Clinical Genetics, Academic Medical Center RCV001795944 SCV002034522 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000507639 SCV002038474 likely benign not provided no assertion criteria provided clinical testing

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