ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.466_467del (p.Glu156fs)

dbSNP: rs1578125670
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000009253 SCV002237502 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2022-08-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 8715). This variant is also known as 'FS164TER'. This premature translational stop signal has been observed in individual(s) with SGCB-related conditions (PMID: 8968749). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu156Lysfs*9) in the SGCB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCB are known to be pathogenic (PMID: 15938573, 18285821).
Mendelics RCV000009253 SCV002519716 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000009253 SCV000029471 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 1996-12-01 no assertion criteria provided literature only

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