ClinVar Miner

Submissions for variant NM_001235.5(SERPINH1):c.710T>C (p.Met237Thr)

dbSNP: rs886039819
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002521861 SCV003440509 uncertain significance not provided 2022-11-28 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SERPINH1 protein function. ClinVar contains an entry for this variant (Variation ID: 265865). This missense change has been observed in individuals with clinical features of osteogenesis imperfecta (PMID: 25510505; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 237 of the SERPINH1 protein (p.Met237Thr).
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000256253 SCV003806808 likely pathogenic Osteogenesis imperfecta type 10 2022-09-05 criteria provided, single submitter clinical testing ACMG classification criteria: PS3 supporting, PS4 moderated, PM2 moderated, PM3 moderated, PP1 supporting, PP3 supporting
OMIM RCV000256253 SCV000322814 pathogenic Osteogenesis imperfecta type 10 2016-10-12 no assertion criteria provided literature only

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