ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)

gnomAD frequency: 0.00021  dbSNP: rs139529811
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726406 SCV000344432 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
Invitae RCV001086957 SCV000649679 likely benign Qualitative or quantitative defects of dysferlin 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000726406 SCV000730591 likely benign not provided 2019-11-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23519732, 16010686)
Illumina Laboratory Services, Illumina RCV001086957 SCV001300374 uncertain significance Qualitative or quantitative defects of dysferlin 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Revvity Omics, Revvity RCV000726406 SCV003829588 uncertain significance not provided 2023-02-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910035 SCV004721408 uncertain significance DYSF-related disorder 2024-02-24 criteria provided, single submitter clinical testing The DYSF c.4052A>G variant is predicted to result in the amino acid substitution p.Asn1351Ser. This variant has been reported in the heterozygous state in an individual with Miyoshi myopathy (Table 2, Nilsson et al. 2013. PubMed ID: 23519732) and it was also reported in the homozygous state with another homozygous variant (p.Arg555Trp) in an individual with Miyoshi myopathy (Table 1, Nguyen et al. 2005. PubMed ID: 16010686). This variant is reported in 0.079% of alleles in individuals of Latino descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001271534 SCV001452765 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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