ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.4108T>C (p.Tyr1370His)

dbSNP: rs2153504327
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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 RCV001366552 SCV001562858 uncertain significance Ehlers-Danlos syndrome, type 4 2020-02-15 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 1370 of the COL3A1 protein (p.Tyr1370His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL3A1-related conditions. 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.

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