Submissions for variant NM_001130987.2(DYSF):c.3406G>A (p.Gly1136Ser)

dbSNP: rs202000264

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001977674	SCV002263292	uncertain significance	Qualitative or quantitative defects of dysferlin	2022-05-27	criteria provided, single submitter	clinical testing	This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1118 of the DYSF protein (p.Gly1118Ser). This variant is present in population databases (rs202000264, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DYSF protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity	RCV003146436	SCV003829617	uncertain significance	not provided	2019-06-27	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV003146436	SCV005187731	uncertain significance	not provided		criteria provided, single submitter	not provided
Neuropathology Laboratory of Hebei Province, The Second Hospital of Hebei Medical University	RCV002287902	SCV002578231	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B		no assertion criteria provided	clinical testing