ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1619C>T (p.Ala540Val)

gnomAD frequency: 0.00004  dbSNP: rs764786977
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199881 SCV000250683 uncertain significance not provided 2020-06-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000548962 SCV000637285 likely benign Shprintzen-Goldberg syndrome 2025-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315617 SCV000739603 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-04-08 criteria provided, single submitter clinical testing The c.1619C>T (p.A540V) alteration is located in exon 5 (coding exon 5) of the SKI gene. This alteration results from a C to T substitution at nucleotide position 1619, causing the alanine (A) at amino acid position 540 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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