ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.412G>A (p.Val138Ile)

gnomAD frequency: 0.00065  dbSNP: rs35810986
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000366609 SCV000372470 uncertain significance Congenital myasthenic syndrome 11 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.
Illumina Laboratory Services, Illumina RCV000269370 SCV000372471 uncertain significance Fetal akinesia deformation sequence 1 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000810152 SCV000950342 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2024-11-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV000269370 SCV001520787 uncertain significance Fetal akinesia deformation sequence 1 2019-07-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002480112 SCV002776783 uncertain significance Congenital myasthenic syndrome 11; Fetal akinesia deformation sequence 2 2022-02-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693040 SCV005191290 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001276398 SCV001462657 likely benign Congenital myasthenic syndrome 2020-04-14 no assertion criteria provided clinical testing

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