Submissions for variant NM_025216.3(WNT10A):c.949del (p.Ala317fs)

dbSNP: rs775990266

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genome-Nilou Lab	RCV000677103	SCV001822020	likely pathogenic	Odonto-onycho-dermal dysplasia	2021-07-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001868287	SCV002235651	pathogenic	Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4	2023-05-17	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the WNT10A protein in which other variant(s) (p.Glu390*) have been determined to be pathogenic (PMID: 24902757). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 559394). This frameshift has been observed in individual(s) with autosomal recessive ectodermal dysplasia (PMID: 28976000, 30569517). This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the WNT10A gene (p.Ala317Hisfs*121). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 101 amino acid(s) of the WNT10A protein and extend the protein by 19 additional amino acid residues.
Department of Prosthodontics, Peking University School and Hospital of Stomatology	RCV000677103	SCV000800830	pathogenic	Odonto-onycho-dermal dysplasia	2018-06-04	no assertion criteria provided	clinical testing
OMIM	RCV000677103	SCV001364405	pathogenic	Odonto-onycho-dermal dysplasia	2020-06-23	no assertion criteria provided	literature only