ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.925G>A (p.Glu309Lys)

gnomAD frequency: 0.00027  dbSNP: rs141993646
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000335405 SCV000395433 uncertain significance Saldino-Mainzer syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Blueprint Genetics RCV001073363 SCV001238904 uncertain significance Retinal dystrophy 2018-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000335405 SCV001722186 benign Saldino-Mainzer syndrome 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002522824 SCV003739683 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing The c.925G>A (p.E309K) alteration is located in exon 9 (coding exon 7) of the IFT140 gene. This alteration results from a G to A substitution at nucleotide position 925, causing the glutamic acid (E) at amino acid position 309 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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