ClinVar Miner

Submissions for variant NM_003873.7(NRP1):c.1712A>T (p.His571Leu)

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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 RCV004837948 SCV005461896 uncertain significance not specified 2024-07-07 criteria provided, single submitter clinical testing The c.1712A>T (p.H571L) alteration is located in exon 10 (coding exon 10) of the NRP1 gene. This alteration results from a A to T substitution at nucleotide position 1712, causing the histidine (H) at amino acid position 571 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004743925 SCV005356627 uncertain significance NRP1-related disorder 2024-07-10 no assertion criteria provided clinical testing The NRP1 c.1712A>T variant is predicted to result in the amino acid substitution p.His571Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0031% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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