Table 7.

Notable SAMD9 Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_017654​.4
NP_060124​.2 		c.1376G>Ap.Arg459GlnFound in 4 unrelated persons [Narumi et al 2016, Buonocore et al 2017, Yoshizaki et al 2019]
c.2920G>Ap.Glu974LysFound in 4 unrelated persons [Narumi et al 2016, Sarthy et al 2018, Zhang et al 2019, Mengen et al 2020]
c.2944C>Tp.Arg982CysFound in 3 unrelated persons [Buonocore et al 2017, Kim et al 2018]
c.3878G>Ap.Arg1293GlnFound in 3 unrelated persons [Buonocore et al 2017, Jeffries et al 2018, Viaene & Harding 2020]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

From: MIRAGE Syndrome

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