Table 8.

Notable GM2A Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_000405​.5
NP_000396​.2 		c.82-2668_243+3312del6142p.Pro28_Lys81delHomozygous exon 2 deletion reported in 1 person to date [Hall et al 2018]
c.164C>Tp.Pro55LeuPresent in 4 persons w/possible subacute-juvenile GM2 activator deficiency, in homozygous state in 1 family w/3 affected sibs [Salih et al 2015] & in compound heterozygous state in 1 affected person in unrelated family [Martins et al 2017]

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: GM2 Activator Deficiency

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