ClinVar Miner

Submissions for variant NM_017799.4(TMEM260):c.1889A>G (p.Tyr630Cys)

gnomAD frequency: 0.00061  dbSNP: rs61739407
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003128988 SCV003805041 uncertain significance not provided 2022-08-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003966273 SCV004784585 likely benign TMEM260-related disorder 2022-06-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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