ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.300A>C (p.Lys100Asn) (rs1569015549)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group, Broad Institute RCV000785915 SCV000924492 likely pathogenic Pseudopseudohypoparathyroidism 2018-06-15 criteria provided, single submitter research The heterozygous p.Lys743Asn variant was identified by our study in one individual with pseudohypoparathyroidism. Trio exome analysis showed this variant to be de novo. This variant was absent from large population studies. The Lysine (Lys) at position 743 is conserved in mammals and evolutionarily distant species, supporting that a change at this position may not be tolerated. Additionally, computational prediction tools suggest that this variant may impact the protein. In summary, although additional studies are required to fully establish its pathogenicity, this variant is likely pathogenic.

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