ClinVar Miner

Submissions for variant NM_001173467.3(SP7):c.135_136del (p.Lys46fs)

dbSNP: rs546981961
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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 RCV001907355 SCV002119006 uncertain significance not provided 2021-04-29 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with SP7-related conditions. This variant is present in population databases (rs546981961, ExAC 0.01%). This sequence change creates a premature translational stop signal (p.Lys46Alafs*7) in the SP7 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 386 amino acid(s) of the SP7 protein.
Fulgent Genetics, Fulgent Genetics RCV002503412 SCV002784283 uncertain significance Osteogenesis imperfecta type 12 2021-08-30 criteria provided, single submitter clinical testing

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