ClinVar Miner

Submissions for variant NM_000474.4(TWIST1):c.352C>G (p.Arg118Gly) (rs1554442015)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP RCV000625526 SCV000599450 likely pathogenic Saethre-Chotzen syndrome no assertion criteria provided clinical testing the affected patients present a c.352C>G nucleotidic change that translates in a residue substitution of the Arginine 118 with a Glycine in the helix-loop-helix domain of the protein. The identified variant falls in an hot spot that in the same syndrome has been found substituted also to cysteine, histidine, proline and serine with pathogenic implications.

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