Submissions for variant NM_000231.3(SGCG):c.195+5G>A

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003071044	SCV003450674	likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2C	2024-11-03	criteria provided, single submitter	clinical testing	This sequence change falls in intron 2 of the SGCG gene. It does not directly change the encoded amino acid sequence of the SGCG protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs532463691, gnomAD 0.002%). This variant has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy and/or limb-girdle muscular dystrophy (internal data). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 2144660). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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 currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic	RCV004790342	SCV005408438	uncertain significance	not provided	2024-07-02	criteria provided, single submitter	clinical testing	PP3, PM2