ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.1006A>G (p.Ile336Val)

gnomAD frequency: 0.00002  dbSNP: rs747931853
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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 RCV001248537 SCV001422031 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2022-08-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 972491). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 336 of the DNAH1 protein (p.Ile336Val).
Ambry Genetics RCV004609713 SCV005109520 uncertain significance not specified 2024-03-25 criteria provided, single submitter clinical testing The c.1006A>G (p.I336V) alteration is located in exon 7 (coding exon 6) of the DNAH1 gene. This alteration results from a A to G substitution at nucleotide position 1006, causing the isoleucine (I) at amino acid position 336 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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