ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1184C>T (p.Ala395Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003260410 SCV003955030 uncertain significance Inborn genetic diseases 2023-06-02 criteria provided, single submitter clinical testing The c.1184C>T (p.A395V) alteration is located in exon 10 (coding exon 10) of the TTC21B gene. This alteration results from a C to T substitution at nucleotide position 1184, causing the alanine (A) at amino acid position 395 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005021883 SCV005651290 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-03-06 criteria provided, single submitter clinical testing

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