ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.1905A>C (p.Lys635Asn)

dbSNP: rs1568707185
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino RCV001312241 SCV001500026 likely pathogenic Tip-toe gait 2020-10-06 criteria provided, single submitter clinical testing We conducted a clinical examination of patients about toe walking. PRX: c.1905A>C was found in a father and son who have similar clinical symptoms. We also examined a control group of children without toe walking (100 children). In this group this variant could not be identified.

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