ClinVar Miner

Submissions for variant NM_000474.4(TWIST1):c.203G>A (p.Ser68Asn) (rs1051003265)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707424 SCV000836522 uncertain significance Craniosynostosis 1; Saethre-Chotzen syndrome 2018-06-11 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 68 of the TWIST1 protein (p.Ser68Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with TWIST1-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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