ClinVar Miner

Submissions for variant NM_000460.4(THPO):c.518T>C (p.Val173Ala)

gnomAD frequency: 0.00001  dbSNP: rs768776540
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000294778 SCV000332210 uncertain significance not provided 2015-06-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV001332471 SCV001524802 uncertain significance Thrombocythemia 1 2019-09-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV000294778 SCV004654293 uncertain significance not provided 2022-10-16 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 not expected to disrupt THPO protein function. ClinVar contains an entry for this variant (Variation ID: 281426). This variant has not been reported in the literature in individuals affected with THPO-related conditions. This variant is present in population databases (rs768776540, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 173 of the THPO protein (p.Val173Ala).

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