ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.1205G>C (p.Gly402Ala) (rs145017164)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724967 SCV000332789 uncertain significance not provided 2015-07-10 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763658 SCV000894538 uncertain significance Deafness, autosomal recessive 23; Usher syndrome, type 1D; Usher syndrome, type 1F 2018-10-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000323966 SCV000711190 uncertain significance not specified 2017-12-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Gly402Ala var iant in PCDH15 has been reported in the heterozygous state in 1 individual with hearing loss (Besnard 2014). It has also been identified in 0.26% (62/24036) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.br oadinstitute.org; dbSNP rs145017164). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic r ole. Computational prediction tools and conservation analysis do not provide str ong support for or against an impact to the protein. In summary, while the clini cal significance of the p.Gly402Ala variant is uncertain, its frequency suggests that it is more likely to be benign. ACMG/AMP Criteria applied: BS1_supporting.

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