ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.898_900del (p.Ser300del)

dbSNP: rs554176183
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000332703 SCV000343234 uncertain significance not provided 2018-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000539312 SCV000657444 uncertain significance Bethlem myopathy 1A 2024-11-04 criteria provided, single submitter clinical testing This variant, c.898_900del, results in the deletion of 1 amino acid(s) of the COL6A3 protein (p.Ser300del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs554176183, gnomAD 0.005%). This variant has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy (PMID: 30564623). ClinVar contains an entry for this variant (Variation ID: 288973). 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.
GeneDx RCV000332703 SCV001992483 uncertain significance not provided 2019-11-25 criteria provided, single submitter clinical testing Reported as a variant of uncertain significance in a patient with limb-girdle muscular dystrophy (Nallamilli et al., 2018); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30564623)

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