ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.313_315del (p.Lys105del)

dbSNP: rs1760622721
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001360274 SCV001556185 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2020-02-19 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SGCD-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. This variant, c.313_315del, results in the deletion of 1 amino acid(s) of the SGCD protein (p.Lys105del), but otherwise preserves the integrity of the reading frame.
Revvity Omics, Revvity RCV003136023 SCV003827644 uncertain significance not provided 2020-03-16 criteria provided, single submitter clinical testing

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