ClinVar Miner

Submissions for variant NM_001385875.1(ZFYVE27):c.378G>A (p.Lys126=)

gnomAD frequency: 0.01901  dbSNP: rs75060573
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000205019 SCV000260337 benign Spastic paraplegia 2024-01-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000118904 SCV000341556 benign not specified 2016-05-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000344472 SCV000366361 benign Hereditary spastic paraplegia 33 2018-01-12 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome-Nilou Lab RCV000344472 SCV002514155 benign Hereditary spastic paraplegia 33 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717990 SCV005318375 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000118904 SCV000153573 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.

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