ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.488dup (p.Leu164fs)

dbSNP: rs763986788
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410508 SCV000485349 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2015-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001008811 SCV001168612 likely pathogenic not provided 2019-08-09 criteria provided, single submitter clinical testing The c.488dupG variant has been previously reported in an individual with limb-girdle weakness, calf hypertrophy, and elevated CK levels who harbored an additional SGCA variant (Klinge et al., 2008). The c.488dupG variant is not observed in large population cohorts (Lek et al., 2016). This variant causes a frameshift starting with codon Leucine 164, changes this amino acid to a Threonine residue, and creates a premature Stop codon at position 27 of the new reading frame, denoted p.Leu164ThrfsX27. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Invitae RCV000410508 SCV002187737 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-07-03 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 18996010). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Leu164Thrfs*27) 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). ClinVar contains an entry for this variant (Variation ID: 370116). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000410508 SCV003931672 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000410508 SCV004203164 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-08-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV000410508 SCV002087568 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2021-03-03 no assertion criteria provided clinical testing

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