ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.*2871T>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV005000582 SCV005622483 likely benign not specified 2024-10-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004737102 SCV005357315 uncertain significance SHH-related disorder 2024-09-27 no assertion criteria provided clinical testing The SHH c.518T>G variant is predicted to result in premature protein termination (p.Leu173*). Of note, this variant is also referred to as c.*2871T>G (post-coding) with the more commonly reported isoform, NM_000193. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.13% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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