Submissions for variant NM_000474.4(TWIST1):c.256_276del (p.Gly86_Gly92del)

dbSNP: rs544465774

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001197694	SCV001368473	benign	Sweeney-Cox syndrome	2018-09-25	criteria provided, single submitter	clinical testing	This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003770212	SCV004568228	uncertain significance	TWIST1-related craniosynostosis; Saethre-Chotzen syndrome	2023-08-17	criteria provided, single submitter	clinical testing	This variant, c.256_276del, results in the deletion of 7 amino acid(s) of the TWIST1 protein (p.Gly86_Gly92del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with TWIST1-related conditions. ClinVar contains an entry for this variant (Variation ID: 931278). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences	RCV004538433	SCV004756240	likely benign	TWIST1-related disorder	2022-05-26	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).