ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.1216G>A (p.Ala406Thr)

gnomAD frequency: 0.00456  dbSNP: rs117336941
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001084142 SCV000261505 benign Charcot-Marie-Tooth disease type 4 2025-02-04 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000576841 SCV000677429 benign Charcot-Marie-Tooth disease type 4F 2017-05-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000762017 SCV000892260 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing PRX: BP4, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000762017 SCV001160093 benign not provided 2024-10-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000576841 SCV001296014 uncertain significance Charcot-Marie-Tooth disease type 4F 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173957 SCV001337076 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV000762017 SCV001937175 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001795335 SCV002034253 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001795335 SCV002034454 benign not specified no assertion criteria provided clinical testing

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