ClinVar Miner

Submissions for variant NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser)

gnomAD frequency: 0.00569  dbSNP: rs116621885
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516506 SCV000615811 benign not specified 2017-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000250393 SCV000630375 benign Welander distal myopathy 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000859341 SCV001152327 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing TIA1: BP4, BS2
Mayo Clinic Laboratories, Mayo Clinic RCV000859341 SCV001713995 uncertain significance not provided 2023-06-05 criteria provided, single submitter clinical testing BP4
GeneDx RCV000859341 SCV001983266 likely benign not provided 2021-04-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29886022, 29599744, 26627873, 29457785)
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989508 SCV004806948 uncertain significance Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia 2024-03-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003891965 SCV000314022 pathogenic TIA1-related disorder 2024-09-03 no assertion criteria provided clinical testing The TIA1 c.1070A>G variant is predicted to result in the amino acid substitution p.Asn357Ser. This variant has been reported in the heterozygous state in at least 15 individuals to cause a digenically inherited distal myopathy when in the presence of a pathogenic SQSTM1 variant (Evilä et al. 2016. PubMed ID: 26627873; Niu et al. 2018. PubMed ID: 29599744; Lee et al. 2018. PubMed ID: 29457785). Functional studies have shown that the c.1070A>G variant dictates a myodegenerative phenotype by disrupting stress granule homeostasis and ubiquitin-mediated autophagic degradation (Lee et al. 2018. PubMed ID: 29457785). Therefore, the c.1070A>G variant (whether heterozygous or homozygous) is only pathogenic for a myopathy phenotype when co-inherited with a pathogenic SQSTM1 variant.

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