ClinVar Miner

Submissions for variant NM_001377275.1(PER3):c.3146C>T (p.Thr1049Ile)

gnomAD frequency: 0.00123  dbSNP: rs144178755
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000964363 SCV001111562 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029914 SCV003543337 uncertain significance not specified 2021-07-21 criteria provided, single submitter clinical testing The c.3119C>T (p.T1040I) alteration is located in exon 18 (coding exon 18) of the PER3 gene. This alteration results from a C to T substitution at nucleotide position 3119, causing the threonine (T) at amino acid position 1040 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000964363 SCV005263788 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003916153 SCV004735008 benign PER3-related disorder 2019-06-19 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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