ClinVar Miner

Submissions for variant NM_015087.5(SPART):c.1130A>T (p.Lys377Met)

gnomAD frequency: 0.00191  dbSNP: rs148672324
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000528566 SCV000633742 likely benign not provided 2023-12-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001114951 SCV001272875 benign Troyer syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Mayo Clinic Laboratories, Mayo Clinic RCV000528566 SCV001714445 uncertain significance not provided 2019-05-21 criteria provided, single submitter clinical testing

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