ClinVar Miner

Submissions for variant NM_001039958.2(MESP2):c.306C>A (p.His102Gln)

gnomAD frequency: 0.00013  dbSNP: rs77473319
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000390297 SCV000337645 benign not specified 2015-12-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000309067 SCV000394379 benign Spondylocostal dysostosis 2, autosomal recessive 2018-01-13 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000903908 SCV001048398 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000903908 SCV001993064 uncertain significance not provided 2019-09-30 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003957433 SCV004771659 likely benign MESP2-related condition 2019-07-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000309067 SCV001456968 likely benign Spondylocostal dysostosis 2, autosomal recessive 2020-01-13 no assertion criteria provided clinical testing

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