ClinVar Miner

Submissions for variant NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn)

gnomAD frequency: 0.00124  dbSNP: rs183272965
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723478 SCV000331133 uncertain significance not provided 2016-12-29 criteria provided, single submitter clinical testing
GeneDx RCV000340120 SCV000577187 uncertain significance not specified 2017-04-07 criteria provided, single submitter clinical testing The T572N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T572N variant is observed in 42/9798 (0.43%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Fulgent Genetics, Fulgent Genetics RCV000765103 SCV000896323 uncertain significance Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083468 SCV001019394 likely benign Eichsfeld type congenital muscular dystrophy 2024-01-13 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000723478 SCV002541953 uncertain significance not provided 2021-08-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920033 SCV004735063 likely benign SELENON-related disorder 2023-06-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
CeGaT Center for Human Genetics Tuebingen RCV000723478 SCV005042291 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing SELENON: BS1

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