ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.325C>T (p.Arg109Ter)

dbSNP: rs750773622
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390947 SCV001592851 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-03-25 criteria provided, single submitter clinical testing This variant is present in population databases (rs750773622, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1076904). This premature translational stop signal has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 17994539). This sequence change creates a premature translational stop signal (p.Arg109*) 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).
Neuberg Centre For Genomic Medicine, NCGM RCV001390947 SCV002072877 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E criteria provided, single submitter clinical testing The stop gained p.R109* in SGCB (NM_000232.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.R109* variant is observed in 1/1,13,748 (0.0009%) alleles from individuals of European (Non-Finnish) background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function mutations have been reported to be disease causing previously. For these reasons, this variant has been classified as Likely Pathogenic.
Athena Diagnostics RCV002473291 SCV002771567 pathogenic not provided 2022-06-29 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene.
Baylor Genetics RCV001390947 SCV004201003 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-03-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001390947 SCV002082988 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-01-29 no assertion criteria provided clinical testing

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