ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.2579G>T (p.Arg860Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003225431 SCV003921365 uncertain significance not provided 2022-10-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004961236 SCV005490684 uncertain significance Inborn genetic diseases 2024-06-26 criteria provided, single submitter clinical testing The c.2579G>T (p.R860L) alteration is located in exon 4 (coding exon 3) of the RP1L1 gene. This alteration results from a G to T substitution at nucleotide position 2579, causing the arginine (R) at amino acid position 860 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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