ClinVar Miner

Submissions for variant NM_002087.3(GRN):c.1288C>G (p.Pro430Ala) (rs200645022)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519811 SCV000620719 uncertain significance not provided 2017-09-21 criteria provided, single submitter clinical testing The P430A variant in the GRN gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P430A variant is observed in 3/11562 (0.025%) alleles from individuals of Latino background, in the ExAC dataset (Lek et al., 2016). The P430A 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 not conserved. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret P430A as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000764132 SCV000895105 uncertain significance Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 2018-10-31 criteria provided, single submitter clinical testing

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