ClinVar Miner

Submissions for variant NM_002862.4(PYGB):c.2047A>G (p.Met683Val)

gnomAD frequency: 0.00002  dbSNP: rs201805961
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004027114 SCV003551736 uncertain significance not specified 2022-10-12 criteria provided, single submitter clinical testing The c.2047A>G (p.M683V) alteration is located in exon 17 (coding exon 17) of the PYGB gene. This alteration results from a A to G substitution at nucleotide position 2047, causing the methionine (M) at amino acid position 683 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000736182 SCV000864479 likely pathogenic Short stature 2001-11-18 no assertion criteria provided case-control

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