ClinVar Miner

Submissions for variant NM_002098.6(GUCA1B):c.1A>G (p.Met1Val)

gnomAD frequency: 0.00001  dbSNP: rs1353019784
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001208341 SCV001379722 uncertain significance not provided 2019-08-26 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with GUCA1B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the GUCA1B mRNA. The next in-frame methionine is located at codon 30.

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