ClinVar Miner

Submissions for variant NM_001173467.3(SP7):c.839G>T (p.Arg280Leu)

gnomAD frequency: 0.00026  dbSNP: rs200582631
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001991329 SCV002282690 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 280 of the SP7 protein (p.Arg280Leu). This variant is present in population databases (rs200582631, 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: 1495322). 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 C35"). 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 RCV002276978 SCV002565037 uncertain significance Osteogenesis imperfecta 2020-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045466 SCV004957735 uncertain significance not specified 2022-08-17 criteria provided, single submitter clinical testing The c.839G>T (p.R280L) alteration is located in exon 3 (coding exon 2) of the SP7 gene. This alteration results from a G to T substitution at nucleotide position 839, causing the arginine (R) at amino acid position 280 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV001991329 SCV005408335 uncertain significance not provided 2024-07-01 criteria provided, single submitter clinical testing BP4, PM2

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