ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.9334C>T (p.Pro3112Ser)

gnomAD frequency: 0.00009  dbSNP: rs534490490
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442036 SCV000530480 likely benign not specified 2016-07-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV003912748 SCV004742685 uncertain significance PCNT-related disorder 2024-07-31 no assertion criteria provided clinical testing The PCNT c.9334C>T variant is predicted to result in the amino acid substitution p.Pro3112Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.025% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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