ClinVar Miner

Submissions for variant NM_000493.4(COL10A1):c.1662T>A (p.Phe554Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003414336 SCV004108098 likely pathogenic COL10A1-related disorder 2023-02-06 criteria provided, single submitter clinical testing The COL10A1 c.1662T>A variant is predicted to result in the amino acid substitution p.Phe554Leu. 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. This variant has been reported as a de novo finding in a patient with metaphyseal widening and short stature tested at PreventionGenetics. This variant is interpreted as likely pathogenic.

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