ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.4025A>G (p.Asn1342Ser)

gnomAD frequency: 0.00001  dbSNP: rs752777683
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001187043 SCV001353701 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-06-14 criteria provided, single submitter clinical testing This missense variant replaces asparagine with serine at codon 1342 of the COL3A1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with COL3A1-related disorders in the literature. This variant has been identified in 2/251344 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002484023 SCV002778531 uncertain significance Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 2021-09-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559963 SCV003485412 uncertain significance Ehlers-Danlos syndrome, type 4 2022-10-03 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COL3A1 protein function. ClinVar contains an entry for this variant (Variation ID: 925218). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. This variant is present in population databases (rs752777683, gnomAD 0.007%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1342 of the COL3A1 protein (p.Asn1342Ser).
All of Us Research Program, National Institutes of Health RCV002559963 SCV004825586 uncertain significance Ehlers-Danlos syndrome, type 4 2023-06-26 criteria provided, single submitter clinical testing This missense variant replaces asparagine with serine at codon 1342 of the COL3A1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 2/251344 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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