ClinVar Miner

Submissions for variant NM_015087.5(SPART):c.361G>T (p.Asp121Tyr)

gnomAD frequency: 0.00180  dbSNP: rs146398746
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000713449 SCV000255014 likely benign not provided 2023-12-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000198273 SCV000383957 uncertain significance Troyer 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.
Eurofins Ntd Llc (ga) RCV000592989 SCV000705579 likely benign not specified 2017-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000713449 SCV000730059 likely benign not provided 2020-08-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713449 SCV000844057 likely benign not provided 2018-04-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713449 SCV001961406 likely benign not provided 2021-07-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847901 SCV002105800 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000713449 SCV001741503 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000713449 SCV001965638 likely benign not provided no assertion criteria provided clinical testing

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