ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) (rs138268837)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516505 SCV000613209 uncertain significance not specified 2017-02-15 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000494287 SCV000927747 uncertain significance not provided 2018-06-12 criteria provided, single submitter clinical testing
Counsyl RCV000672486 SCV000797593 uncertain significance Limb-girdle muscular dystrophy, type 2B 2018-01-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000494287 SCV000709580 uncertain significance not provided 2017-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000494287 SCV000581998 likely pathogenic not provided 2015-08-11 criteria provided, single submitter clinical testing The P1400R variant in the DYSF gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The P1400R variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common variant in these populations. The P1400R variant is a non-conservative amino acid substitution, which occurs within the C2 domain at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The P1400R variant is a strong candidate for a disease-causing variant, however the possibility it may be a rare benign variant cannot be excluded.
Invitae RCV000648027 SCV000769837 likely benign Dysferlinopathy 2017-09-01 criteria provided, single submitter clinical testing

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