ClinVar Miner

Submissions for variant NM_001081550.2(THOC2):c.2734G>C (p.Ala912Pro)

gnomAD frequency: 0.00002  dbSNP: rs1256411821
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330248 SCV001521875 uncertain significance X-linked intellectual disability-short stature-overweight syndrome 2022-07-06 criteria provided, single submitter clinical testing
GeneDx RCV003106195 SCV003762056 uncertain significance not provided 2022-07-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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

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