Submissions for variant NM_001145026.2(PTPRQ):c.6586A>G (p.Met2196Val)

gnomAD frequency: 0.00141  dbSNP: rs200166814

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000485096	SCV000573561	uncertain significance	not provided	2017-03-06	criteria provided, single submitter	clinical testing	The M2196V variant in the PTPRQ gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The M2196V variant is observed in 19/9348 (0.2%) alleles from individuals of European background, in the ExAC dataset (Lek et al., 2016). The M2196V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Methionine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret M2196V as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics	RCV000765110	SCV000896332	uncertain significance	Autosomal recessive nonsyndromic hearing loss 84A; Hearing loss, autosomal dominant 73	2018-10-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003932783	SCV004749109	likely benign	PTPRQ-related condition	2023-01-05	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).