ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3808A>C (p.Lys1270Gln)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003207546 SCV003884272 uncertain significance Inborn genetic diseases 2023-02-23 criteria provided, single submitter clinical testing The c.3808A>C (p.K1270Q) alteration is located in exon 34 (coding exon 34) of the IFT172 gene. This alteration results from a A to C substitution at nucleotide position 3808, causing the lysine (K) at amino acid position 1270 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV003224646 SCV003920704 uncertain significance Bardet-Biedl syndrome criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV005029933 SCV005656024 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-03-11 criteria provided, single submitter clinical testing

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