ClinVar Miner

Submissions for variant NM_001235.5(SERPINH1):c.336C>T (p.Gly112=)

gnomAD frequency: 0.00005  dbSNP: rs775801195
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000289650 SCV000374083 uncertain significance Osteogenesis imperfecta type 10 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757755 SCV000886100 uncertain significance not provided 2017-10-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000757755 SCV002189356 uncertain significance not provided 2022-03-11 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 112 of the SERPINH1 protein (Silent). This variant is present in population databases (rs775801195, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with SERPINH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 306098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Breakthrough Genomics, Breakthrough Genomics RCV000757755 SCV005190473 uncertain significance not provided criteria provided, single submitter not provided

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