ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.3302C>T (p.Thr1101Met)

gnomAD frequency: 0.00005  dbSNP: rs147484315
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000275471 SCV000411656 uncertain significance Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Eurofins Ntd Llc (ga) RCV000728987 SCV000856617 uncertain significance not provided 2017-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002521215 SCV003543898 uncertain significance Inborn genetic diseases 2022-06-30 criteria provided, single submitter clinical testing The c.3302C>T (p.T1101M) alteration is located in exon 27 (coding exon 27) of the WDR62 gene. This alteration results from a C to T substitution at nucleotide position 3302, causing the threonine (T) at amino acid position 1101 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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