ClinVar Miner

Submissions for variant NM_001303.4(COX10):c.394G>T (p.Asp132Tyr)

gnomAD frequency: 0.00004  dbSNP: rs141549844
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331898 SCV001524049 uncertain significance Leigh syndrome 2019-06-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001865746 SCV002310642 uncertain significance not provided 2022-05-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 132 of the COX10 protein (p.Asp132Tyr). This variant is present in population databases (rs141549844, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with COX10-related conditions. ClinVar contains an entry for this variant (Variation ID: 1030367). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002476548 SCV002784909 uncertain significance Mitochondrial complex 4 deficiency, nuclear type 3 2022-04-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169552 SCV003876995 uncertain significance Inborn genetic diseases 2023-02-16 criteria provided, single submitter clinical testing The c.394G>T (p.D132Y) alteration is located in exon 3 (coding exon 3) of the COX10 gene. This alteration results from a G to T substitution at nucleotide position 394, causing the aspartic acid (D) at amino acid position 132 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Johnston Lab, North Central College RCV001865746 SCV005200384 not provided not provided no assertion provided in vitro

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