ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.1A>G (p.Met1Val)

gnomAD frequency: 0.00002  dbSNP: rs756367674
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664603 SCV000788596 uncertain significance Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2017-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000814111 SCV000954510 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2022-01-17 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the SGCD mRNA. The next in-frame methionine is located at codon 2. This variant is present in population databases (rs756367674, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SGCD-related conditions. ClinVar contains an entry for this variant (Variation ID: 549998). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV000664603 SCV002789252 uncertain significance Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2021-11-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000814111 SCV003931749 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233796 SCV003931750 uncertain significance Dilated cardiomyopathy 1L 2023-02-08 criteria provided, single submitter clinical testing

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