Submissions for variant NM_000096.4(CP):c.181G>T (p.Asp61Tyr)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003078178	SCV003470328	uncertain significance	Deficiency of ferroxidase	2023-08-04	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 2157586). This variant has not been reported in the literature in individuals affected with CP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 61 of the CP protein (p.Asp61Tyr). 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 CP 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.
Mayo Clinic Laboratories, Mayo Clinic	RCV004790360	SCV005410439	uncertain significance	not provided	2024-03-18	criteria provided, single submitter	clinical testing	PM2