ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1A>G (p.Met1Val)

gnomAD frequency: 0.00001  dbSNP: rs1435376086
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001217260 SCV001389094 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2019-06-04 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the TTC21B mRNA. The next in-frame methionine is located at codon 49. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TTC21B-related conditions. 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.
Precision Medicine Center, Zhengzhou University RCV004577542 SCV004218479 pathogenic Nephronophthisis 12 2023-12-01 criteria provided, single submitter clinical testing PM2_p,PM3,PP3

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