ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn)

dbSNP: rs1588615451
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002235045 SCV000955332 likely pathogenic Ehlers-Danlos syndrome, classic type, 1 2018-12-05 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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"). This variant has been observed to be de novo in an individual with clinical features of Ehlers-Danlos syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with asparagine at codon 1735 of the COL5A1 protein (p.Ser1735Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine.
GeneDx RCV001759582 SCV002006063 likely pathogenic not provided 2023-03-10 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV001759582 SCV002821986 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing COL5A1: PM2
Illumina Laboratory Services, Illumina RCV002235045 SCV004036005 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2023-04-13 criteria provided, single submitter clinical testing The COL5A1 c.5204G>A (p.Ser1735Asn) missense variant has not, to our knowledge, been reported in the peer-reviewed literature. This variant is not observed in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Multiple lines of computational evidence suggest the variant may impact the gene or gene product. Based on the available evidence, the c.5204G>A (p.Ser1735Asn) variant is classified as a variant of uncertain significance for classic Ehlers-Danlos syndrome.

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