ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3160C>T (p.Pro1054Ser)

dbSNP: rs1576471847
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001992628 SCV002222998 uncertain significance Ehlers-Danlos syndrome, type 4 2022-07-05 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: 1445591). This missense change has been observed in individual(s) with clinical features of Ehlers-Danlos syndrome (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1054 of the COL3A1 protein (p.Pro1054Ser).

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