ClinVar Miner

Submissions for variant NM_001303.4(COX10):c.781G>T (p.Ala261Ser)

gnomAD frequency: 0.00025  dbSNP: rs138560674
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000305071 SCV000341204 uncertain significance not provided 2016-04-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487248 SCV002799671 uncertain significance Mitochondrial complex 4 deficiency, nuclear type 3 2022-03-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165752 SCV003887057 uncertain significance Inborn genetic diseases 2023-02-14 criteria provided, single submitter clinical testing The c.781G>T (p.A261S) alteration is located in exon 6 (coding exon 6) of the COX10 gene. This alteration results from a G to T substitution at nucleotide position 781, causing the alanine (A) at amino acid position 261 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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