ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.1918G>A (p.Glu640Lys)

gnomAD frequency: 0.00089  dbSNP: rs553583384
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001598845 SCV001827417 benign not provided 2021-02-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001598845 SCV002488335 benign not provided 2023-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506701 SCV002797459 likely benign Epiphyseal dysplasia, multiple, 3; Intervertebral disc disorder 2021-07-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004980611 SCV005562444 uncertain significance Inborn genetic diseases 2024-12-07 criteria provided, single submitter clinical testing The c.1918G>A (p.E640K) alteration is located in exon 32 (coding exon 32) of the COL9A3 gene. This alteration results from a G to A substitution at nucleotide position 1918, causing the glutamic acid (E) at amino acid position 640 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003931239 SCV004739602 likely benign COL9A3-related disorder 2019-03-06 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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