ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.634A>C (p.Thr212Pro)

dbSNP: rs2104704629
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272748 SCV002556896 uncertain significance Retinitis pigmentosa 38 2021-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005095975 SCV005834826 uncertain significance not provided 2024-05-26 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 212 of the MERTK protein (p.Thr212Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with inherited retinal disease (PMID: 27160483). ClinVar contains an entry for this variant (Variation ID: 1698891). 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 MERTK protein function with a negative predictive value of 80%. 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.

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