ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.1378G>A (p.Gly460Ser)

gnomAD frequency: 0.00005  dbSNP: rs369924450
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585081 SCV000693264 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing RP1L1: PM2, BP4
Illumina Laboratory Services, Illumina RCV001159303 SCV001321010 likely benign Occult macular dystrophy 2018-01-13 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Ambry Genetics RCV002530866 SCV003684818 uncertain significance Inborn genetic diseases 2024-05-30 criteria provided, single submitter clinical testing The c.1378G>A (p.G460S) alteration is located in exon 4 (coding exon 3) of the RP1L1 gene. This alteration results from a G to A substitution at nucleotide position 1378, causing the glycine (G) at amino acid position 460 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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