ClinVar Miner

Submissions for variant NM_144991.3(TSPEAR):c.151G>A (p.Val51Ile)

gnomAD frequency: 0.00129  dbSNP: rs150016894
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000220995 SCV000270963 likely benign not specified 2015-10-04 criteria provided, single submitter clinical testing p.Val51Ile in exon 2 of TSPEAR: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, 6 mammals have an isoleucine (Ile) at this position. In addition, computati onal prediction tools do not suggest a high likelihood of impact to the protein. Furthermore, this variant has been identified in 0.15% (97/65584) of European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs150016894).
Eurofins Ntd Llc (ga) RCV000730688 SCV000858446 uncertain significance not provided 2017-12-20 criteria provided, single submitter clinical testing
GeneDx RCV000730688 SCV001825586 likely benign not provided 2020-11-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000730688 SCV002426686 likely benign not provided 2024-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003929900 SCV004747044 likely benign TSPEAR-related disorder 2024-01-16 no assertion criteria provided 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).

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