ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys)

dbSNP: rs397517876
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000219294 SCV000272873 uncertain significance not specified 2016-03-01 criteria provided, single submitter clinical testing The p.Asn806Lys variant in USH1C has not been previously reported in individuals with hearing loss or Usher syndrome or in large population studies. Computation al prediction tools and conservation analyses suggest that the p.Asn806Lys varia nt may impact the protein, though this information is not predictive enough to d etermine pathogenicity. In summary, the clinical significance of the p.Asn806Lys variant is uncertain.
Counsyl RCV000670409 SCV000795259 uncertain significance Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2017-11-02 criteria provided, single submitter clinical testing
Invitae RCV001360961 SCV001556917 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 506 of the USH1C protein (p.Asn506Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with USH1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 229603). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Natera, Inc. RCV001828087 SCV002081295 uncertain significance Usher syndrome type 1C 2021-08-11 no assertion criteria provided clinical testing

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