ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1570G>T (p.Ala524Ser)

gnomAD frequency: 0.00009  dbSNP: rs201008860
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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 RCV001405534 SCV001607462 likely benign Multiple gastrointestinal atresias 2025-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002553420 SCV003695182 uncertain significance Inborn genetic diseases 2021-10-18 criteria provided, single submitter clinical testing The c.1570G>T (p.A524S) alteration is located in exon 14 (coding exon 14) of the TTC7A gene. This alteration results from a G to T substitution at nucleotide position 1570, causing the alanine (A) at amino acid position 524 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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