Submissions for variant NM_001042702.5(PJVK):c.405A>C (p.Thr135=)

gnomAD frequency: 0.00009  dbSNP: rs373800401

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150398	SCV000197572	likely benign	not specified	2013-12-15	criteria provided, single submitter	clinical testing	Thr135Thr in Exon 3 of DFNB59: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and, although it is lo cated 3 bp away from the exon/intron junction, computational tools do not sugges t an impact to splicing. The variant has been identified in 0.03% (3/8600) of E uropean American chromosomes by the NHLBI Exome Sequencing Project (http://evs.g s.washington.edu/EVS/; dbSNP rs20098046).
Illumina Laboratory Services, Illumina	RCV001133847	SCV001293561	uncertain significance	Autosomal recessive nonsyndromic hearing loss 59	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003727622	SCV004535709	likely benign	not provided	2024-01-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935262	SCV004757553	likely benign	PJVK-related disorder	2020-08-19	no assertion criteria provided	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).