Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
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. |