ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1230G>C (p.Gln410His) (rs563097824)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498197 SCV000590194 uncertain significance not provided 2017-06-12 criteria provided, single submitter clinical testing The c.1230 G>C variant in the MAN2B1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is observed in 5/16,492 alleles (0.03%) from individuals of South Asian background in the ExAC dataset, with no homozygous control individuals reported (Lek et al., 2016). Splice models predict that c.1230 G>C destroys the natural splice door site of exon 9. However, in the absence of RNA/functional studies, the actual effect of the c.1230 G>C change in this individual is unknown. If c.1230 G>C does not alter splicing, it will result in the Q410H missense change. The Q410H variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret c.1230 G>C as a variant of uncertain significance.
Natera, Inc. RCV001273204 SCV001455939 uncertain significance Deficiency of alpha-mannosidase 2020-01-24 no assertion criteria provided clinical testing

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