ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3532C>T (p.Pro1178Ser)

gnomAD frequency: 0.00003  dbSNP: rs759565407
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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 RCV000622384 SCV000741651 uncertain significance Inborn genetic diseases 2016-07-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001302811 SCV001492035 uncertain significance Ehlers-Danlos syndrome, type 4 2022-11-11 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: 521182). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.03%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1178 of the COL3A1 protein (p.Pro1178Ser).
Fulgent Genetics, Fulgent Genetics RCV002483748 SCV002792218 uncertain significance Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 2021-07-20 criteria provided, single submitter clinical testing

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