ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.2072C>T (p.Ala691Val)

gnomAD frequency: 0.00004  dbSNP: rs777096767
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560560 SCV000631715 uncertain significance Ehlers-Danlos syndrome, kyphoscoliotic type 1 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 691 of the PLOD1 protein (p.Ala691Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs777096767, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with PLOD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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