ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.698C>T (p.Thr233Met)

gnomAD frequency: 0.00005  dbSNP: rs373314306
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001228132 SCV001400517 uncertain significance not provided 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 233 of the CDHR1 protein (p.Thr233Met). This variant is present in population databases (rs373314306, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with CDHR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 955484). 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 CDHR1 protein function. 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005359972 SCV005911892 uncertain significance Cone-rod dystrophy 15 2021-09-03 criteria provided, single submitter research

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