ClinVar Miner

Submissions for variant NM_003051.4(SLC16A1):c.979C>T (p.Pro327Ser)

gnomAD frequency: 0.00029  dbSNP: rs77373295
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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 RCV000986395 SCV000347272 uncertain significance Exercise-induced hyperinsulinism 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.
Mendelics RCV000986395 SCV001135391 uncertain significance Exercise-induced hyperinsulinism 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519371 SCV003485221 uncertain significance not provided 2023-10-24 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 327 of the SLC16A1 protein (p.Pro327Ser). This variant is present in population databases (rs77373295, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with SLC16A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 291861). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003298351 SCV004006655 uncertain significance Inborn genetic diseases 2023-04-08 criteria provided, single submitter clinical testing The c.979C>T (p.P327S) alteration is located in exon 4 (coding exon 3) of the SLC16A1 gene. This alteration results from a C to T substitution at nucleotide position 979, causing the proline (P) at amino acid position 327 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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