ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.1024G>A (p.Asp342Asn)

gnomAD frequency: 0.00001  dbSNP: rs768644199
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001998028 SCV002251533 uncertain significance Cranioectodermal dysplasia 1 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 393 of the IFT122 protein (p.Asp393Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs768644199, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with IFT122-related conditions. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV001998028 SCV002779145 uncertain significance Cranioectodermal dysplasia 1 2021-12-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694054 SCV005189775 uncertain significance not provided criteria provided, single submitter not provided

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