ClinVar Miner

Submissions for variant NM_001278074.1(COL5A1):c.1307C>T (p.Ala436Val) (rs144269434)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506749 SCV000603192 uncertain significance not specified 2015-11-12 criteria provided, single submitter clinical testing
Invitae RCV000537083 SCV000631447 uncertain significance Ehlers-Danlos syndrome, classic type 2019-06-24 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 436 of the COL5A1 protein (p.Ala436Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs144269434, ExAC 0.01%). This variant has not been reported in the literature in individuals with COL5A1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Ambry Genetics RCV000619168 SCV000738688 uncertain significance Cardiovascular phenotype 2017-12-15 criteria provided, single submitter clinical testing Insufficient evidence

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