ClinVar Miner

Submissions for variant NM_015135.3(NUP205):c.3056A>G (p.Asn1019Ser)

gnomAD frequency: 0.00081  dbSNP: rs78254699
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000961153 SCV001108185 likely benign not provided 2024-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029894 SCV003538709 uncertain significance not specified 2021-09-01 criteria provided, single submitter clinical testing The c.3056A>G (p.N1019S) alteration is located in exon 21 (coding exon 21) of the NUP205 gene. This alteration results from a A to G substitution at nucleotide position 3056, causing the asparagine (N) at amino acid position 1019 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003926144 SCV004746367 likely benign NUP205-related disorder 2022-12-19 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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