ClinVar Miner

Submissions for variant NM_016630.7(SPG21):c.846G>A (p.Ala282=)

gnomAD frequency: 0.00044  dbSNP: rs146986015
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199178 SCV000253543 likely benign Mast syndrome 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000199178 SCV000393256 uncertain significance Mast syndrome 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.
Athena Diagnostics Inc RCV000518621 SCV000615430 likely benign not specified 2016-09-19 criteria provided, single submitter clinical testing
GeneDx RCV000518621 SCV000726022 likely benign not specified 2017-12-27 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847898 SCV002105827 uncertain significance Hereditary spastic paraplegia 2020-05-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003389761 SCV004132674 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing SPG21: BP4, BP7

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