ClinVar Miner

Submissions for variant NM_001145418.2(TTC28):c.5726T>C (p.Val1909Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004158982 SCV003650583 uncertain significance not specified 2022-06-24 criteria provided, single submitter clinical testing The c.5726T>C (p.V1909A) alteration is located in exon 22 (coding exon 22) of the TTC28 gene. This alteration results from a T to C substitution at nucleotide position 5726, causing the valine (V) at amino acid position 1909 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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