ClinVar Miner

Submissions for variant NM_001289104.2(PRKCSH):c.823G>A (p.Ala275Thr)

gnomAD frequency: 0.00023  dbSNP: rs142339453
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000330692 SCV000410681 likely benign Polycystic liver disease 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002521185 SCV003289954 likely benign not provided 2022-05-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002521186 SCV003694765 uncertain significance Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing The c.823G>A (p.A275T) alteration is located in exon 10 (coding exon 9) of the PRKCSH gene. This alteration results from a G to A substitution at nucleotide position 823, causing the alanine (A) at amino acid position 275 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genetic Services Laboratory, University of Chicago RCV003151029 SCV003839922 likely benign not specified 2022-11-23 no assertion criteria provided clinical testing

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