ClinVar Miner

Submissions for variant NM_018051.5(DYNC2I1):c.1883G>A (p.Ser628Asn)

gnomAD frequency: 0.00110  dbSNP: rs149660873
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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 RCV000946055 SCV001092143 likely benign Short-rib thoracic dysplasia 8 with or without polydactyly 2025-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001759673 SCV001987638 uncertain significance not provided 2019-04-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV004029778 SCV004859600 uncertain significance Inborn genetic diseases 2024-05-28 criteria provided, single submitter clinical testing The c.1883G>A (p.S628N) alteration is located in exon 15 (coding exon 15) of the WDR60 gene. This alteration results from a G to A substitution at nucleotide position 1883, causing the serine (S) at amino acid position 628 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004753132 SCV005355118 likely benign DYNC2I1-related disorder 2024-03-07 no assertion criteria provided 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).

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