ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.4747G>A (p.Ala1583Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001354408 SCV001549021 uncertain significance not provided no assertion criteria provided clinical testing The DNAH5 p.Ala1583Thr variant was not identified in the literature nor was it identified in ClinVar. The variant was identified in dbSNP (ID: rs374072143) and LOVD 3.0 (variant effect not shared). The variant was identified in control databases in 2 of 282694 chromosomes at a frequency of 0.000007075 (Genome Aggregation Database March 6, 2019, v2.1.1). The variant was observed in the following populations: Other in 1 of 7208 chromosomes (freq: 0.000139) and African in 1 of 24964 chromosomes (freq: 0.00004), but was not observed in the Latino, Ashkenazi Jewish, East Asian, European (Finnish), European (non-Finnish), or South Asian populations. The p.Ala1583 residue is not conserved in mammals and four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein; however, this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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