ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.3385A>T (p.Thr1129Ser) (rs2236405)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492383 SCV000581023 benign Hereditary cancer-predisposing syndrome 2014-12-03 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000127647 SCV000511433 likely benign not provided 2016-07-22 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121893 SCV000227879 benign not specified 2015-03-13 criteria provided, single submitter clinical testing
GeneDx RCV000127647 SCV000171226 benign not provided 2013-08-27 criteria provided, single submitter clinical testing The variant is found in PTCH panel(s).
ITMI RCV000121893 SCV000086096 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000361116 SCV000481270 likely benign Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266478 SCV000481271 likely benign Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000127647 SCV000696379 benign not provided 2016-05-24 criteria provided, single submitter clinical testing Variant summary: The PTCH1 c.3583A>T (p.Thr1195Ser) variant involves the alteration of a conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 1271/23496 control chromosomes (51 homozygotes) at a frequency of 0.0540943, which is approximately 3157 times the estimated maximal expected allele frequency of a pathogenic PTCH1 variant (0.0000171), suggesting this variant is likely a benign polymorphism. This variant has been reported in NBCCS patients. One patient also carried a potentially pathogenic variant c.3499G>A (p.G1167R), further supporting the benign classification. In addition, multiple clinical diagnostic laboratories classified this variant as benign. Taken together, this variant is classified as benign.
PreventionGenetics RCV000121893 SCV000303353 benign not specified 2016-03-02 criteria provided, single submitter clinical testing

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