ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.2245G>A (p.Glu749Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004503169 SCV005003366 uncertain significance Inborn genetic diseases 2023-12-19 criteria provided, single submitter clinical testing The c.2245G>A (p.E749K) alteration is located in exon 19 (coding exon 19) of the PDE6A gene. This alteration results from a G to A substitution at nucleotide position 2245, causing the glutamic acid (E) at amino acid position 749 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818459 SCV005071006 uncertain significance Retinal dystrophy 2017-01-01 no assertion criteria provided clinical testing

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