ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.4610C>T (p.Ala1537Val)

gnomAD frequency: 0.00006  dbSNP: rs375128393
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000391840 SCV000471109 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics RCV004022062 SCV005014534 uncertain significance Inborn genetic diseases 2023-09-20 criteria provided, single submitter clinical testing The c.4610C>T (p.A1537V) alteration is located in exon 4 (coding exon 3) of the RP1L1 gene. This alteration results from a C to T substitution at nucleotide position 4610, causing the alanine (A) at amino acid position 1537 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004696046 SCV005195787 uncertain significance not provided criteria provided, single submitter not provided
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816616 SCV005071409 uncertain significance Retinal dystrophy 2022-01-01 no assertion criteria provided clinical testing

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