ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.2787del (p.Lys930fs)

dbSNP: rs754521978
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000517732 SCV000339086 pathogenic not provided 2016-02-10 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000517732 SCV000614802 pathogenic not provided 2014-10-27 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with pathogenicity. Found in multiple individuals with expected phenotype for this gene.
Labcorp Genetics (formerly Invitae), Labcorp RCV001048951 SCV001212981 pathogenic Charcot-Marie-Tooth disease type 4 2024-08-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys930Serfs*28) in the PRX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 532 amino acid(s) of the PRX protein. This variant is present in population databases (rs754521978, gnomAD 0.04%). This premature translational stop signal has been observed in individuals with Charcot-Marie-Tooth disease (PMID: 11133365). This variant is also known as S929fsX957. ClinVar contains an entry for this variant (Variation ID: 217239). This variant disrupts a region of the PRX protein in which other variant(s) (p.Arg1070*) have been determined to be pathogenic (PMID: 15197604, 15469949, 16770524, 22847150, 26059842). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000517732 SCV003933479 likely pathogenic not provided 2024-08-12 criteria provided, single submitter clinical testing Frameshift variant predicted to result in abnormal protein length as the last 532 amino acids are replaced with 27 different amino acids, and other similar variants have been reported in HGMD; This variant is associated with the following publications: (PMID: 11133365)
OMIM RCV000005054 SCV000025230 pathogenic Autosomal recessive Dejerine-Sottas syndrome 2001-02-01 no assertion criteria provided literature only

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