ClinVar Miner

Submissions for variant NM_014822.4(SEC24D):c.938G>A (p.Arg313His)

gnomAD frequency: 0.00006  dbSNP: rs148676365
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001869240 SCV002145546 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 313 of the SEC24D protein (p.Arg313His). This variant is present in population databases (rs148676365, gnomAD 0.02%). This missense change has been observed in individual(s) with SEC24D-related conditions (PMID: 27942778, 30462379). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 638182). 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"). 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.
OMIM RCV000790646 SCV000929998 pathogenic Cole-Carpenter syndrome 2 2019-07-27 no assertion criteria provided literature only

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