ClinVar Miner

Submissions for variant NM_015346.4(ZFYVE26):c.5612G>A (p.Cys1871Tyr)

gnomAD frequency: 0.00962  dbSNP: rs61746722
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001082976 SCV000259490 benign Spastic paraplegia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000435012 SCV000521454 benign not specified 2016-07-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics RCV000713436 SCV000844044 benign not provided 2018-04-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001119664 SCV001278092 benign Hereditary spastic paraplegia 15 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847922 SCV002106081 benign Hereditary spastic paraplegia 2021-11-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001119664 SCV002514118 benign Hereditary spastic paraplegia 15 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713436 SCV002545186 benign not provided 2024-05-01 criteria provided, single submitter clinical testing ZFYVE26: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000713436 SCV005289234 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000713436 SCV001797989 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000713436 SCV001959195 likely benign not provided no assertion criteria provided clinical testing

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