ClinVar Miner

Submissions for variant NM_001173467.3(SP7):c.799C>T (p.Arg267Cys)

gnomAD frequency: 0.00019  dbSNP: rs201666834
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756460 SCV001985238 uncertain significance not provided 2020-08-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001756460 SCV002196150 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 267 of the SP7 protein (p.Arg267Cys). This variant is present in population databases (rs201666834, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with SP7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1302961). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276880 SCV002565036 uncertain significance Osteogenesis imperfecta 2020-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040064 SCV003701668 uncertain significance not specified 2022-08-17 criteria provided, single submitter clinical testing The c.799C>T (p.R267C) alteration is located in exon 3 (coding exon 2) of the SP7 gene. This alteration results from a C to T substitution at nucleotide position 799, causing the arginine (R) at amino acid position 267 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV001756460 SCV005408337 uncertain significance not provided 2024-07-01 criteria provided, single submitter clinical testing BP4, PM2

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