ClinVar Miner

Submissions for variant NM_015346.4(ZFYVE26):c.7407T>C (p.Asp2469=)

gnomAD frequency: 0.01846  dbSNP: rs35106153
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083397 SCV000290161 benign Spastic paraplegia 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000375792 SCV000388002 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000430274 SCV000523460 benign not specified 2016-10-24 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 RCV000233782 SCV001145756 benign not provided 2018-09-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847997 SCV002106115 benign Hereditary spastic paraplegia 2017-05-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000375792 SCV002514104 benign Hereditary spastic paraplegia 15 2021-12-05 criteria provided, single submitter clinical testing

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