Submissions for variant NM_178857.6(RP1L1):c.1090C>G (p.Pro364Ala)

gnomAD frequency: 0.00003  dbSNP: rs372699223

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000292749	SCV000471224	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.
GeneDx	RCV002472996	SCV002769974	uncertain significance	not provided	2022-06-23	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	RCV002523618	SCV003557548	uncertain significance	Inborn genetic diseases	2022-12-19	criteria provided, single submitter	clinical testing	The c.1090C>G (p.P364A) alteration is located in exon 4 (coding exon 3) of the RP1L1 gene. This alteration results from a C to G substitution at nucleotide position 1090, causing the proline (P) at amino acid position 364 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.