ClinVar Miner

Submissions for variant NM_139319.3(SLC17A8):c.1631AGA[1] (p.Lys545del)

dbSNP: rs141689561
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000304875 SCV000375125 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001570770 SCV001795116 likely benign not provided 2020-02-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001570770 SCV002110779 uncertain significance not provided 2024-07-10 criteria provided, single submitter clinical testing This variant, c.1634_1636del, results in the deletion of 1 amino acid(s) of the SLC17A8 protein (p.Lys545del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs141689561, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with SLC17A8-related conditions. ClinVar contains an entry for this variant (Variation ID: 306636). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV003957590 SCV004770373 likely benign SLC17A8-related disorder 2023-06-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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