ClinVar Miner

Submissions for variant NM_138691.3(TMC1):c.624C>A (p.Ser208Arg)

gnomAD frequency: 0.00002  dbSNP: rs781747541
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005239061 SCV005885094 uncertain significance not specified 2024-12-18 criteria provided, single submitter clinical testing Variant summary: TMC1 c.624C>A (p.Ser208Arg) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 251220 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.624C>A has been reported in the literature in individuals affected with Nhearing loss (example, Guan_2021, He_2018, Shearer_2013, Yuan_2019). These data do not allow any conclusion about variant significance. At least one publication reports experimental evidence evaluating an impact on protein function, however, does not allow convincing conclusions about the variant effect (Vache_2021). The following publications have been ascertained in the context of this evaluation (PMID: 34416374, 29178603, 23804846, 34857896, 31541171). ClinVar contains an entry for this variant (Variation ID: 417922). Based on the evidence outlined above, the variant was classified as uncertain significance.
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477752 SCV000536854 uncertain significance Autosomal recessive nonsyndromic hearing loss 7; Autosomal dominant nonsyndromic hearing loss 36 2016-02-25 no assertion criteria provided research

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