ClinVar Miner

Submissions for variant NM_004606.5(TAF1):c.421C>G (p.Pro141Ala)

dbSNP: rs1602451776
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000790523 SCV000929856 uncertain significance Intellectual disability, X-linked, syndromic 33 criteria provided, single submitter research Mother and two maternal aunts are heteroygous for the variant and are unaffected.
GeneDx RCV003325516 SCV004031699 uncertain significance not provided 2023-02-28 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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