ClinVar Miner

Submissions for variant NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu)

gnomAD frequency: 0.00022  dbSNP: rs200701839
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000382870 SCV000427894 likely benign Waardenburg syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV000288552 SCV000427895 benign Craniofacial-deafness-hand syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195199 SCV001365505 likely benign not specified 2019-08-05 criteria provided, single submitter clinical testing The p.Pro372Leu variant in PAX3 is classified as likely benign because it has been identified in 0.03% (12/30602) of South Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. ACMG/AMP Criteria applied: BS1.
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375455 SCV001572080 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PP3_Supporting
GeneDx RCV001545472 SCV001764810 likely benign not provided 2020-09-14 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001545472 SCV003287963 likely benign not provided 2023-07-12 criteria provided, single submitter clinical testing

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