Submissions for variant NM_017654.4(SAMD9):c.2960T>C (p.Leu987Ser)

gnomAD frequency: 0.00001  dbSNP: rs1290938428

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV002208775	SCV002495943	uncertain significance	Normophosphatemic familial tumoral calcinosis; MIRAGE syndrome	2021-06-22	criteria provided, single submitter	clinical testing	SAMD9 NM_017654.3 exon 3 p.Leu987Ser (c.2960T>C): This variant has not been reported in the literature but is present in 0.006% (1/15270) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/7-93103138-A-G?dataset=gnomad_r3). Evolutionary conservation suggests that this variant may not impact the protein; computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
PreventionGenetics, part of Exact Sciences	RCV004548239	SCV004110075	uncertain significance	SAMD9-related disorder	2023-07-29	criteria provided, single submitter	clinical testing	The SAMD9 c.2960T>C variant is predicted to result in the amino acid substitution p.Leu987Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-92732451-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.