ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1350del (p.Phe451fs)

dbSNP: rs766936914
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666793 SCV000791149 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855467 SCV002228649 pathogenic Qualitative or quantitative defects of dysferlin 2022-03-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 551669). This premature translational stop signal has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy and/or dysferlinopathy (PMID: 17994539, 27647186). This sequence change creates a premature translational stop signal (p.Phe419Leufs*41) in the DYSF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). This variant is present in population databases (rs766936914, gnomAD 0.0009%). This variant is also known as Pro418ProfsX123.
Baylor Genetics RCV003465454 SCV004192269 pathogenic Miyoshi muscular dystrophy 1 2023-01-10 criteria provided, single submitter clinical testing

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