ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn)

gnomAD frequency: 0.00236  dbSNP: rs35234349
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000313881 SCV000332322 likely benign not specified 2015-06-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000962335 SCV001109411 likely benign not provided 2025-01-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002272 SCV001160150 likely benign Retinitis pigmentosa 1 2018-08-21 criteria provided, single submitter clinical testing
GeneDx RCV000962335 SCV001987835 uncertain significance not provided 2019-04-08 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported as likely benign in ClinVar but additional evidence is not available (ClinVar SCV000332322.4; Landrum et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004955367 SCV005490639 uncertain significance Inborn genetic diseases 2024-09-26 criteria provided, single submitter clinical testing The c.3132A>C (p.K1044N) alteration is located in exon 4 (coding exon 3) of the RP1 gene. This alteration results from a A to C substitution at nucleotide position 3132, causing the lysine (K) at amino acid position 1044 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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