ClinVar Miner

Submissions for variant NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile)

gnomAD frequency: 0.00319  dbSNP: rs151166497
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079938 SCV000219051 benign Spastic paraplegia 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000168361 SCV000528792 benign not provided 2018-08-13 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000660475 SCV000782572 benign Hereditary spastic paraplegia 15 2019-11-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000168361 SCV001149240 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing ZFYVE26: BP4, BS2
Illumina Laboratory Services, Illumina RCV000660475 SCV001277977 uncertain significance Hereditary spastic paraplegia 15 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.
Athena Diagnostics Inc RCV000421762 SCV001475543 benign not specified 2019-12-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847797 SCV002106112 likely benign Hereditary spastic paraplegia 2021-03-16 criteria provided, single submitter clinical testing

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