ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu)

gnomAD frequency: 0.00043  dbSNP: rs139411595
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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) RCV000278721 SCV000335831 uncertain significance not provided 2017-03-07 criteria provided, single submitter clinical testing
Invitae RCV000792442 SCV000931742 likely benign Qualitative or quantitative defects of dysferlin 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002518888 SCV003760819 uncertain significance Inborn genetic diseases 2022-05-16 criteria provided, single submitter clinical testing The c.4301C>T (p.S1434L) alteration is located in exon 39 (coding exon 39) of the DYSF gene. This alteration results from a C to T substitution at nucleotide position 4301, causing the serine (S) at amino acid position 1434 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000278721 SCV003829618 uncertain significance not provided 2023-11-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003909953 SCV004723696 likely benign DYSF-related condition 2022-06-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001274838 SCV001459354 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-28 no assertion criteria provided clinical testing

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