ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1A>T (p.Met1Leu)

dbSNP: rs1687765120
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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 RCV001231945 SCV001404483 uncertain significance Ehlers-Danlos syndrome, type 4 2020-02-15 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. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with COL3A1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the COL3A1 mRNA. The next in-frame methionine is located at codon 2.

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