ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.2197G>T (p.Val733Phe)

dbSNP: rs1589309412
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988400 SCV001138104 uncertain significance Cone-rod dystrophy 15 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001858691 SCV002271457 uncertain significance not provided 2022-10-25 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 CDHR1 protein function. ClinVar contains an entry for this variant (Variation ID: 802597). This missense change has been observed in individual(s) with retinitis pigmentosa (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 733 of the CDHR1 protein (p.Val733Phe).

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