ClinVar Miner

Submissions for variant NM_181458.4(PAX3):c.540C>G (p.Ser180Arg)

gnomAD frequency: 0.00020  dbSNP: rs200679164
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000601148 SCV000711527 uncertain significance not specified 2016-06-02 criteria provided, single submitter clinical testing The p.Ser180Arg variant in PAX3 has not been previously reported in individuals with hearing loss or Waardenburg syndrome, but has been identified in 8/10406 Af rican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs200679164). Although this variant has been seen in the gene ral population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses do not provide strong s upport for or against an impact to the protein. In summary, the clinical signifi cance of the p.Ser180Arg variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV000765615 SCV000896939 uncertain significance Alveolar rhabdomyosarcoma; Waardenburg syndrome type 1; Craniofacial-deafness-hand syndrome; Waardenburg syndrome type 3 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003718260 SCV004506925 likely benign not provided 2024-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024887 SCV005000129 uncertain significance Inborn genetic diseases 2022-01-03 criteria provided, single submitter clinical testing The c.540C>G (p.S180R) alteration is located in exon 4 (coding exon 4) of the PAX3 gene. This alteration results from a C to G substitution at nucleotide position 540, causing the serine (S) at amino acid position 180 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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