ClinVar Miner

Submissions for variant NM_001375905.1(SGMS2):c.714_715insAT (p.Phe239fs)

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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 RCV003087001 SCV003486123 uncertain significance not provided 2024-09-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe239Ilefs*16) in the SGMS2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SGMS2 cause disease. This variant is present in population databases (rs779248083, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SGMS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2171606). 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 RCV005028237 SCV005659926 uncertain significance Calvarial doughnut lesions-bone fragility syndrome 2024-01-09 criteria provided, single submitter clinical testing

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