ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.2992C>G (p.Pro998Ala) (rs397517454)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039719 SCV000063408 uncertain significance not specified 2013-05-13 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Pro998Ala in PC DH15 has been not been reported in the literature or in large population databas es, but was identified by our laboratory in one other individual with auditory n europathy/dys-synchrony with optic atrophy. However, the variant was heterozygou s and a second PCDH15 variant was not identified. Computational analyses (bioche mical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do no t provide strong support for or against an impact to the protein. In summary, ad ditional information is needed to determined the clinical significance of this v ariant.
Counsyl RCV000671480 SCV000796456 uncertain significance Usher syndrome, type 1F 2017-12-14 criteria provided, single submitter clinical testing

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