ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.3937A>C (p.Lys1313Gln) (rs886038983)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253473 SCV000319481 uncertain significance Cardiovascular phenotype 2015-03-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
Fulgent Genetics,Fulgent Genetics RCV000765599 SCV000896916 uncertain significance Ehlers-Danlos syndrome, type 4 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000765599 SCV000940294 uncertain significance Ehlers-Danlos syndrome, type 4 2018-12-26 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamine at codon 1313 of the COL3A1 protein (p.Lys1313Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine. 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. ClinVar contains an entry for this variant (Variation ID: 263935). 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: "Deleterious"; PolyPhen-2: "Not Available"; 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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