ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)

dbSNP: rs780264754
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725557 SCV000337768 pathogenic not provided 2015-12-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000778107 SCV000403948 uncertain significance Sarcoglycanopathy 2017-04-27 criteria provided, single submitter clinical testing The SGCA c.402C>G (p.Tyr134Ter) variant has been reported in one study, in one individual with limb girdle muscular dystrophy in a compound heterozygous state with a commonly found pathogenic missense variant (Schara et al. 2001). Frequency information is not available from the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium. Based on the limited evidence and due to the nature of stop-gained variants, the p.Tyr134Ter variant is classified as a variant of uncertain significance but suspicious for pathogenicity for alpha-sarcoglycanopathy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Labcorp Genetics (formerly Invitae), Labcorp RCV000286102 SCV001211504 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-06-07 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: 284945). This premature translational stop signal has been observed in individual(s) with Limb-Girdle muscular dystrophy (PMID: 11475588). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr134*) in the SGCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCA are known to be pathogenic (PMID: 9192266).
Revvity Omics, Revvity RCV000286102 SCV003825590 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-04-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000286102 SCV004208731 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2021-11-09 criteria provided, single submitter clinical testing
GeneDx RCV000725557 SCV005390431 likely pathogenic not provided 2024-05-04 criteria provided, single submitter clinical testing Reported in individuals with limb girdle muscular dystrophy who harbored a second pathogenic SGCA variant in unknown phase (PMID: 11475588, 30919934, 37526466, 33386810); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 33386810, 11475588, 30919934, 37526466)
Counsyl RCV000286102 SCV000800770 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2017-06-13 no assertion criteria provided clinical testing
Natera, Inc. RCV000286102 SCV002087565 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2020-10-04 no assertion criteria provided clinical testing

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