ClinVar Miner

Submissions for variant NM_002087.3(GRN):c.53C>T (p.Thr18Met) (rs199572314)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521954 SCV000619907 uncertain significance not provided 2017-08-15 criteria provided, single submitter clinical testing The T18M variant in the GRN gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is observed in 1/16,508 (0.006%) alleles from individuals of South Asian background and in 3/66,590 (0.004%) alleles from individuals of non-Finnish European background in the ExAC dataset, with no homozygous control individuals reported (Lek et al., 2016). The T18M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In addition, this substitution occurs at a position that is conserved across mammalian species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret T18M as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000764130 SCV000895103 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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