Submissions for variant NM_000337.6(SGCD):c.775_777del (p.Lys259del)

dbSNP: rs1207864818

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000673893	SCV000799147	uncertain significance	Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F	2018-04-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001861825	SCV002206332	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2F	2022-09-13	criteria provided, single submitter	clinical testing	This variant, c.775_777del, results in the deletion of 1 amino acid(s) of the SGCD protein (p.Lys259del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SGCD-related conditions. ClinVar contains an entry for this variant (Variation ID: 557718). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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.
Genome-Nilou Lab	RCV001861825	SCV003931914	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2F	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003233807	SCV003931915	uncertain significance	Dilated cardiomyopathy 1L	2023-02-08	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004692069	SCV005188710	uncertain significance	not provided		criteria provided, single submitter	not provided