ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.1861C>T (p.Pro621Ser)

dbSNP: rs1555906903
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658148 SCV000779919 uncertain significance not provided 2023-05-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004533439 SCV004722606 uncertain significance OFD1-related disorder 2023-12-24 no assertion criteria provided clinical testing The OFD1 c.1861C>T variant is predicted to result in the amino acid substitution p.Pro621Ser. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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