ClinVar Miner

Submissions for variant NM_025233.7(COASY):c.778C>T (p.Pro260Ser)

gnomAD frequency: 0.00003  dbSNP: rs756141692
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001308086 SCV001497521 uncertain significance Neurodegeneration with brain iron accumulation 6 2024-10-25 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 260 of the COASY protein (p.Pro260Ser). This variant is present in population databases (rs756141692, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with COASY-related conditions. ClinVar contains an entry for this variant (Variation ID: 1010453). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt COASY 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252359 SCV002523286 uncertain significance See cases 2019-10-09 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, PP3
GeneDx RCV004762065 SCV005369373 likely pathogenic not provided 2024-04-06 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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