ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.348_352dup (p.Gln118fs)

dbSNP: rs752640127
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529542 SCV000649763 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2024-03-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln118Leufs*95) 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). This variant is present in population databases (rs752640127, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with SGCA-related conditions (PMID: 9032047). This variant is also known as "duplication of 347-351". ClinVar contains an entry for this variant (Variation ID: 471332). For these reasons, this variant has been classified as Pathogenic.
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269775 SCV001450030 pathogenic not provided 2018-11-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000529542 SCV003931660 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000529542 SCV004203189 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2024-03-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000529542 SCV005649534 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2024-06-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV000529542 SCV002087560 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2020-07-03 no assertion criteria provided clinical testing

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