Submissions for variant NM_001144967.3(NEDD4L):c.450G>T (p.Met150Ile)

dbSNP: rs2059009305

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001322955	SCV001513852	benign	not provided	2022-08-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004651585	SCV005146396	uncertain significance	Inborn genetic diseases	2024-04-01	criteria provided, single submitter	clinical testing	The c.450G>T (p.M150I) alteration is located in exon 8 (coding exon 8) of the NEDD4L gene. This alteration results from a G to T substitution at nucleotide position 450, causing the methionine (M) at amino acid position 150 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003953661	SCV004766687	uncertain significance	NEDD4L-related disorder	2023-10-24	no assertion criteria provided	clinical testing	The NEDD4L c.450G>T variant is predicted to result in the amino acid substitution p.Met150Ile. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.