ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.7973A>G (p.Tyr2658Cys)

dbSNP: rs377216163
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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 RCV001235463 SCV001408149 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001235463 SCV002676490 uncertain significance Primary ciliary dyskinesia 2015-10-06 criteria provided, single submitter clinical testing The p.Y2658C variant (also known as c.7973A>G), located in coding exon 49 of the DNAH11 gene, results from an A to G substitution at nucleotide position 7973. The tyrosine at codon 2658 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant was previously reported in the SNPDatabase as rs377216163, but was absent from population-based cohorts in the NHLBI Exome Sequencing Project (ESP) and 1000 Genomes Project databases. In the ESP, this variant was not observed in 6052 samples (12104 alleles) with coverage at this position. This amino acid position is well conserved in mammals but not in all available vertebrate species. In addition, this alteration is predicted to be tolerated by SIFT in silico analysis. Since supporting evidence is limited at this time, the clinical significance of p.Y2658C remains unclear.

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