ClinVar Miner

Submissions for variant NM_153700.2(STRC):c.274C>T (p.Arg92Trp)

dbSNP: rs1484849703
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506887 SCV000605316 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing The p.Arg92Trp variant has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation database with an overall population frequency of 0.003 percent (identified on 5 out of 144,822 chromosomes). The arginine at position 92 is moderately conserved (Alamut v.2.9.0) and computational analyses of the effects of the p.Arg92Trp variant on protein structure and function predict a deleterious effect (SIFT: damaging, MutationTaster: disease causing, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.Arg92Trp variant with certainty.
Baylor Genetics RCV001331817 SCV001523944 uncertain significance Autosomal recessive nonsyndromic hearing loss 16 2019-06-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV001331817 SCV002763166 uncertain significance Autosomal recessive nonsyndromic hearing loss 16 criteria provided, single submitter clinical testing

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