Submissions for variant NM_153700.2(STRC):c.379C>T (p.Arg127Ter)

gnomAD frequency: 0.00007  dbSNP: rs771264491

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000613880	SCV000712484	pathogenic	Rare genetic deafness	2016-09-01	criteria provided, single submitter	clinical testing	The p.Arg127X variant in STRC has not been previously reported in individuals wi th hearing loss. Data from large population studies are insufficient to assess t he frequency of this variant in the general population accurately. This nonsens e variant leads to a premature termination codon at position 127, which is predi cted to lead to a truncated or absent protein. Loss of function of the STRC gene is an established disease mechanism in autosomal recessive hearing loss. In sum mary, this variant meets criteria to be classified as pathogenic for hearing los s in an autosomal recessive manner.
GenomeConnect, ClinGen	RCV001249569	SCV001423538	not provided	Autosomal recessive nonsyndromic hearing loss 16		no assertion provided	phenotyping only	Variant interpretted as Pathogenic and reported on 09-01-2016 by Lab or GTR ID 21766. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.