ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5450T>G (p.Ile1817Ser)

gnomAD frequency: 0.00001  dbSNP: rs753632964
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000297368 SCV000336338 uncertain significance not provided 2015-10-20 criteria provided, single submitter clinical testing
GeneDx RCV000297368 SCV002818988 uncertain significance not provided 2022-07-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24438169)
Ambry Genetics RCV003343739 SCV004066205 uncertain significance Inborn genetic diseases 2023-08-15 criteria provided, single submitter clinical testing The c.5333T>G (p.I1778S) alteration is located in exon 47 (coding exon 47) of the DYSF gene. This alteration results from a T to G substitution at nucleotide position 5333, causing the isoleucine (I) at amino acid position 1778 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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