ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.976A>G (p.Lys326Glu)

gnomAD frequency: 0.00032  dbSNP: rs188580536
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002273580 SCV002558441 uncertain significance not provided 2022-01-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004047491 SCV005014574 uncertain significance Inborn genetic diseases 2023-10-05 criteria provided, single submitter clinical testing The c.976A>G (p.K326E) alteration is located in exon 4 (coding exon 3) of the RP1L1 gene. This alteration results from a A to G substitution at nucleotide position 976, causing the lysine (K) at amino acid position 326 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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