ClinVar Miner

Submissions for variant NM_001012502.3(CFAP157):c.191T>C (p.Val64Ala)

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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 RCV004615156 SCV005110063 uncertain significance not specified 2024-05-20 criteria provided, single submitter clinical testing The c.191T>C (p.V64A) alteration is located in exon 2 (coding exon 2) of the CFAP157 gene. This alteration results from a T to C substitution at nucleotide position 191, causing the valine (V) at amino acid position 64 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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