ClinVar Miner

Submissions for variant NM_145020.5(CFAP53):c.553G>A (p.Ala185Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003148523 SCV003836453 uncertain significance Heterotaxy, visceral, 6, autosomal 2022-04-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246160 SCV004925343 uncertain significance Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing The c.553G>A (p.A185T) alteration is located in exon 4 (coding exon 4) of the CCDC11 gene. This alteration results from a G to A substitution at nucleotide position 553, causing the alanine (A) at amino acid position 185 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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