ClinVar Miner

Submissions for variant NM_000751.3(CHRND):c.904A>C (p.Thr302Pro)

dbSNP: rs561839978
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703239 SCV000832131 uncertain significance Lethal multiple pterygium syndrome 2021-11-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CHRND-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 302 of the CHRND protein (p.Thr302Pro). ClinVar contains an entry for this variant (Variation ID: 579854). 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 expected to disrupt CHRND protein function.

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