ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1211C>T (p.Thr404Ile)

gnomAD frequency: 0.00011  dbSNP: rs200585609
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153554 SCV000203084 uncertain significance not provided 2014-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000540891 SCV000640513 benign Nemaline myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000540891 SCV001290849 uncertain significance Nemaline myopathy 2 2018-02-16 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.
Ambry Genetics RCV002514959 SCV003610403 uncertain significance Inborn genetic diseases 2024-05-30 criteria provided, single submitter clinical testing The c.1211C>T (p.T404I) alteration is located in exon 14 (coding exon 12) of the NEB gene. This alteration results from a C to T substitution at nucleotide position 1211, causing the threonine (T) at amino acid position 404 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000153554 SCV003810324 uncertain significance not provided 2021-02-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV000540891 SCV001457264 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing

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