ClinVar Miner

Submissions for variant NM_014822.4(SEC24D):c.2842T>C (p.Ser948Pro)

dbSNP: rs1175597762
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001873231 SCV002213710 uncertain significance not provided 2021-02-21 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. 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant has been observed in individual(s) with osteogenesis imperfecta (PMID: 27942778). ClinVar contains an entry for this variant (Variation ID: 638181). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with proline at codon 948 of the SEC24D protein (p.Ser948Pro). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and proline.
OMIM RCV000790645 SCV000929997 pathogenic Cole-Carpenter syndrome 2 2019-07-27 no assertion criteria provided literature only

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