ClinVar Miner

Submissions for variant NM_003489.4(NRIP1):c.1469C>T (p.Ser490Phe)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002993201 SCV003722827 uncertain significance Inborn genetic diseases 2022-11-08 criteria provided, single submitter clinical testing The c.1469C>T (p.S490F) alteration is located in exon 4 (coding exon 1) of the NRIP1 gene. This alteration results from a C to T substitution at nucleotide position 1469, causing the serine (S) at amino acid position 490 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003561155 SCV004276546 likely benign not provided 2024-12-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946400 SCV004766004 likely benign NRIP1-related disorder 2023-06-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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