ClinVar Miner

Submissions for variant NM_021815.5(SLC5A7):c.313C>T (p.Pro105Ser)

dbSNP: rs886039766
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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 RCV000526729 SCV000638453 uncertain significance Neuronopathy, distal hereditary motor, type 7A; Congenital myasthenic syndrome 20 2019-04-03 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change impairs choline uptake in vitro (PMID: 27569547). This variant has been reported along with a second variant in an individual affected with congenital myasthenic syndrome with episodic apnea (PMID: 27569547). ClinVar contains an entry for this variant (Variation ID: 265762). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 105 of the SLC5A7 protein (p.Pro105Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine.
OMIM RCV000256184 SCV000322730 pathogenic Congenital myasthenic syndrome 20 2016-10-07 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003909895 SCV004723175 uncertain significance SLC5A7-related disorder 2023-12-22 no assertion criteria provided clinical testing The SLC5A7 c.313C>T variant is predicted to result in the amino acid substitution p.Pro105Ser. This variant was reported with another missense variant in an individual with autosomal recessive congenital myasthenic syndrome with episodic apnea; and in vitro functional expression studies in HEK293 cells showed that these missense variants resulted in normal protein expressions, but had significantly decreased choline uptake compared to controls (Bauché et al. 2016. PubMed ID: 27569547). This variant has not been reported in a large population database, indicating this variant is rare. Although we suspect this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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