ClinVar Miner

Submissions for variant NM_178554.6(KY):c.988C>T (p.Pro330Ser)

gnomAD frequency: 0.00039  dbSNP: rs201201519
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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 RCV000906267 SCV001050895 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537596 SCV003678118 uncertain significance Inborn genetic diseases 2021-08-12 criteria provided, single submitter clinical testing The c.988C>T (p.P330S) alteration is located in exon 10 (coding exon 10) of the KY gene. This alteration results from a C to T substitution at nucleotide position 988, causing the proline (P) at amino acid position 330 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV000906267 SCV004170453 uncertain significance not provided 2023-04-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003912947 SCV004731451 benign KY-related disorder 2019-05-24 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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