ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1529G>A (p.Arg510Gln)

gnomAD frequency: 0.01561  dbSNP: rs77890266
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234465 SCV000290015 benign Hereditary spastic paraplegia 48 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000234465 SCV000469492 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455474 SCV000538289 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Athena Diagnostics Inc RCV000455474 SCV001476132 benign not specified 2019-12-23 criteria provided, single submitter clinical testing
GeneDx RCV001722258 SCV001946988 benign not provided 2019-08-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847982 SCV002106139 benign Hereditary spastic paraplegia 2021-10-09 criteria provided, single submitter clinical testing

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