ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1603A>T (p.Ile535Phe)

gnomAD frequency: 0.00004  dbSNP: rs749071692
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001362971 SCV001559037 likely benign Multiple gastrointestinal atresias 2024-05-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169816 SCV003864270 uncertain significance Inborn genetic diseases 2023-03-07 criteria provided, single submitter clinical testing The c.1603A>T (p.I535F) alteration is located in exon 14 (coding exon 14) of the TTC7A gene. This alteration results from a A to T substitution at nucleotide position 1603, causing the isoleucine (I) at amino acid position 535 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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