Submissions for variant NM_020458.4(TTC7A):c.1641+3G>C

gnomAD frequency: 0.00011  dbSNP: rs370452371

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001207181	SCV001378523	uncertain significance	Multiple gastrointestinal atresias	2022-09-13	criteria provided, single submitter	clinical testing	This sequence change falls in intron 14 of the TTC7A gene. It does not directly change the encoded amino acid sequence of the TTC7A protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs370452371, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 938035). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
CeGaT Center for Human Genetics Tuebingen	RCV003883577	SCV004702149	uncertain significance	not provided	2023-12-01	criteria provided, single submitter	clinical testing	TTC7A: PM2, BP4