ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5536C>G (p.Pro1846Ala)

gnomAD frequency: 0.00002  dbSNP: rs763456971
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489106 SCV000576961 uncertain significance not provided 2017-04-13 criteria provided, single submitter clinical testing The P1846A variant in the MYO7A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P1846A variant is observed in 1/3890 (0.025%) alleles from individuals of Latino background in the ExAC dataset (Lek et al., 2016). The P1846A variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. A missense variant in the same residue, P1846H, has been reported in an individual with Usher syndrome type 1 who was also heterozygous for a frameshift deletion, however, familial segregation information was not included (Aparisi et al., 2014). We interpret P1846A as a variant of uncertain significance.
Natera, Inc. RCV001834585 SCV002088508 uncertain significance Usher syndrome type 1B 2019-11-11 no assertion criteria provided clinical testing

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