ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu)

gnomAD frequency: 0.00001  dbSNP: rs758977418
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000328923 SCV000336928 uncertain significance not provided 2015-11-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765511 SCV000896817 uncertain significance Microcephalic osteodysplastic primordial dwarfism type II 2018-10-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000765511 SCV001474338 likely benign Microcephalic osteodysplastic primordial dwarfism type II 2020-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002521920 SCV003546461 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.5975C>T (p.P1992L) alteration is located in exon 28 (coding exon 28) of the PCNT gene. This alteration results from a C to T substitution at nucleotide position 5975, causing the proline (P) at amino acid position 1992 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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