ClinVar Miner

Submissions for variant NM_001372.4(DNAH9):c.9534T>G (p.Phe3178Leu)

gnomAD frequency: 0.00001  dbSNP: rs760692393
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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 RCV002764982 SCV003759416 uncertain significance Inborn genetic diseases 2022-06-06 criteria provided, single submitter clinical testing The c.9534T>G (p.F3178L) alteration is located in exon 50 (coding exon 50) of the DNAH9 gene. This alteration results from a T to G substitution at nucleotide position 9534, causing the phenylalanine (F) at amino acid position 3178 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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