ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.1277T>C (p.Met426Thr)

gnomAD frequency: 0.00003  dbSNP: rs368044285
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001093097 SCV001249920 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001166930 SCV001329357 uncertain significance Congenital myasthenic syndrome 9 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.
Invitae RCV002069614 SCV002333546 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2024-01-31 criteria provided, single submitter clinical testing

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