ClinVar Miner

Submissions for variant NM_153700.2(STRC):c.4701+1G>A

dbSNP: rs199839039
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Total submissions: 3
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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 RCV000211855 SCV000200477 pathogenic Rare genetic deafness 2022-11-03 criteria provided, single submitter clinical testing The c.4701+1G>A variant in STRC has been previously reported in 1 individual with hearing loss who carried a second STRC variant in trans (Sheppard et al., PMID: 29907799) and another individual with hearing loss that carried a pathogenic STRC deletion. This variant has also been identified in 8/16512 South Asian and 2/66724 European chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org/; dbSNP rs199839039). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. This variant occurs in the invariant region (+1/2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. In summary, this variant meets our criteria to be classified as pathogenic for autosomal recessive hearing loss based on the predicted impact. ACMG/AMP criteria applied: PSV1_Strong, PM3_Strong.
Revvity Omics, Revvity RCV000151944 SCV002023684 likely pathogenic Autosomal recessive nonsyndromic hearing loss 16 2022-03-21 criteria provided, single submitter clinical testing
Division of Human Genetics, Children's Hospital of Philadelphia RCV000151944 SCV000238472 likely pathogenic Autosomal recessive nonsyndromic hearing loss 16 2015-05-23 no assertion criteria provided research The heterozygous variant was identified in the STRC gene (c.4701+1G>A) is considered likely pathogenic. This variant was previously been seen in 10 individuals in ExAC and has not been previously published. Available splice predictors () predict a complete loss of the splice site with a potential shifting of the splice by one nucleotide which would result in a frame shift.

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