ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.1794G>C (p.Glu598Asp)

dbSNP: rs147885790
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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 RCV001347982 SCV001542266 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-06-25 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1043819). This variant has not been reported in the literature in individuals affected with IFT172-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 598 of the IFT172 protein (p.Glu598Asp).
Ambry Genetics RCV004036534 SCV004886212 uncertain significance Inborn genetic diseases 2023-12-12 criteria provided, single submitter clinical testing The c.1794G>C (p.E598D) alteration is located in exon 17 (coding exon 17) of the IFT172 gene. This alteration results from a G to C substitution at nucleotide position 1794, causing the glutamic acid (E) at amino acid position 598 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005014467 SCV005651447 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-04-15 criteria provided, single submitter clinical testing

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