ClinVar Miner

Submissions for variant NM_032901.4(COX14):c.160T>C (p.Ser54Pro)

gnomAD frequency: 0.00001  dbSNP: rs778925220
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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 RCV001985929 SCV002263943 uncertain significance not provided 2022-07-18 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1480415). This variant has not been reported in the literature in individuals affected with COX14-related conditions. This variant is present in population databases (rs778925220, gnomAD 0.02%). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 54 of the COX14 protein (p.Ser54Pro).
Fulgent Genetics, Fulgent Genetics RCV002492222 SCV002778195 uncertain significance Mitochondrial complex 4 deficiency, nuclear type 10 2022-02-11 criteria provided, single submitter clinical testing

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