ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.4043A>G (p.Asp1348Gly)

dbSNP: rs1688703417
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001236529 SCV001409257 uncertain significance Ehlers-Danlos syndrome, type 4 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1348 of the COL3A1 protein (p.Asp1348Gly). This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: 962640). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions.
Fulgent Genetics, Fulgent Genetics RCV002480774 SCV002785918 uncertain significance Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 2021-09-24 criteria provided, single submitter clinical testing

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