ClinVar Miner

Submissions for variant NM_015346.4(ZFYVE26):c.7232G>A (p.Arg2411His)

gnomAD frequency: 0.03090  dbSNP: rs34373049
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206230 SCV000261379 benign Spastic paraplegia 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000350454 SCV000388004 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000421147 SCV000519781 benign not specified 2016-04-13 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 Inc RCV000421147 SCV000616328 benign not specified 2017-08-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847939 SCV002106114 benign Hereditary spastic paraplegia 2021-12-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000350454 SCV002514106 benign Hereditary spastic paraplegia 15 2021-12-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699234 SCV001926756 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001699234 SCV001951558 likely benign not provided no assertion criteria provided clinical testing

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