ClinVar Miner

Submissions for variant NM_001128228.3(TPRN):c.1094A>G (p.Gln365Arg)

gnomAD frequency: 0.00028  dbSNP: rs780953179
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756803 SCV000884719 benign not provided 2017-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000756803 SCV002038733 uncertain significance not provided 2021-12-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000756803 SCV003289710 likely benign not provided 2023-04-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027137 SCV004969996 uncertain significance Inborn genetic diseases 2021-06-25 criteria provided, single submitter clinical testing The c.1094A>G (p.Q365R) alteration is located in exon 1 (coding exon 1) of the TPRN gene. This alteration results from a A to G substitution at nucleotide position 1094, causing the glutamine (Q) at amino acid position 365 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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