ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2797G>A (p.Glu933Lys)

gnomAD frequency: 0.00002  dbSNP: rs1259402740
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641162 SCV000762789 uncertain significance Saldino-Mainzer syndrome 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 933 of the IFT140 protein (p.Glu933Lys). This variant is present in population databases (no rsID available, gnomAD 0.03%). This missense change has been observed in individual(s) with retinitis pigmentosa (Invitae). ClinVar contains an entry for this variant (Variation ID: 533864). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on IFT140 protein function. 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.
Blueprint Genetics RCV001073520 SCV001239067 uncertain significance Retinal dystrophy 2019-04-26 criteria provided, single submitter clinical testing

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