Submissions for variant NM_001174147.2(LMX1B):c.305A>G (p.Tyr102Cys)

dbSNP: rs1564143881

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001868340	SCV002159502	likely pathogenic	not provided	2022-11-29	criteria provided, single submitter	clinical testing	In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt LMX1B protein function. ClinVar contains an entry for this variant (Variation ID: 587694). This missense change has been observed in individual(s) with Nail-Patella syndrome (PMID: 30881852; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 102 of the LMX1B protein (p.Tyr102Cys).
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria	RCV000714975	SCV000844951	pathogenic	Nail-patella syndrome		no assertion criteria provided	clinical testing