ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.970-5C>T

gnomAD frequency: 0.00052  dbSNP: rs373671779
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001161202 SCV001323054 uncertain significance Hereditary spastic paraplegia 48 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849135 SCV002106221 uncertain significance Hereditary spastic paraplegia 2018-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001161202 SCV002244277 likely benign Hereditary spastic paraplegia 48 2024-10-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002536226 SCV003562881 uncertain significance Inborn genetic diseases 2021-09-22 criteria provided, single submitter clinical testing The c.970-5C>T intronic alteration consists of a C to T substitution 5 nucleotides before coding exon 9 in the AP5Z1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818067 SCV005069476 uncertain significance Optic atrophy 2023-01-01 no assertion criteria provided clinical testing

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