Submissions for variant NM_001130987.2(DYSF):c.2402C>T (p.Ala801Val)

gnomAD frequency: 0.00059  dbSNP: rs147139414

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000385438	SCV000341984	uncertain significance	not provided	2018-07-05	criteria provided, single submitter	clinical testing
Invitae	RCV000525552	SCV000649628	likely benign	Qualitative or quantitative defects of dysferlin	2024-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000385438	SCV001791926	uncertain significance	not provided	2022-10-10	criteria provided, single submitter	clinical testing	Reported as a variant of uncertain significance in a patient with limb-girdle muscular dystrophy who also harbored the P233L variant in the DYSF gene. Additional clinical and segregation information was not provided (Nallamilli et al., 2018).; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30564623)
Revvity Omics, Revvity	RCV000385438	SCV003831260	uncertain significance	not provided	2023-08-31	criteria provided, single submitter	clinical testing
GenomeConnect - Invitae Patient Insights Network	RCV001535516	SCV001749476	not provided	Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset; Qualitative or quantitative defects of dysferlin; Miyoshi myopathy		no assertion provided	phenotyping only	Variant interpreted as Uncertain significance and reported on 06-04-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.