ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.5554A>G (p.Met1852Val)

gnomAD frequency: 0.00023  dbSNP: rs142080697
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000305534 SCV000437018 uncertain significance Microcephalic osteodysplastic primordial dwarfism type II 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV002057787 SCV002364741 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002523201 SCV003699310 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.5554A>G (p.M1852V) alteration is located in exon 28 (coding exon 28) of the PCNT gene. This alteration results from a A to G substitution at nucleotide position 5554, causing the methionine (M) at amino acid position 1852 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003912435 SCV004744973 likely benign PCNT-related condition 2022-01-09 criteria provided, single submitter 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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