ClinVar Miner

Submissions for variant NM_003873.7(NRP1):c.2471T>C (p.Ile824Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004190840 SCV003686581 uncertain significance not specified 2021-10-05 criteria provided, single submitter clinical testing The c.2471T>C (p.I824T) alteration is located in exon 16 (coding exon 16) of the NRP1 gene. This alteration results from a T to C substitution at nucleotide position 2471, causing the isoleucine (I) at amino acid position 824 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003963761 SCV004778546 likely benign NRP1-related disorder 2021-06-28 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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