ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) (rs148064565)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718344 SCV000849206 likely benign Seizures 2017-03-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000189741 SCV000615826 uncertain significance not specified 2017-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000766956 SCV000243389 uncertain significance not provided 2018-08-08 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TPP1 gene. The D87G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D87G variant is observed in 27/10340 (0.3%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D87G 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. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. However, this substitution occurs at a position that is not conserved. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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