ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1369C>T (p.Leu457=)

gnomAD frequency: 0.01503  dbSNP: rs111358719
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000470183 SCV000469489 benign Hereditary spastic paraplegia 48 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.
Invitae RCV000470183 SCV000563508 benign Hereditary spastic paraplegia 48 2024-01-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001288779 SCV001476131 benign not specified 2019-12-30 criteria provided, single submitter clinical testing
GeneDx RCV001675871 SCV001893100 benign not provided 2019-05-17 criteria provided, single submitter clinical testing

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